SNP Links for Protein (Select 1189438244) - SNP

Links from Protein

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Select item 14869095921.

rs1486909592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:29615809 (GRCh38)
17:27942827 (GRCh37)
Canonical SPDI:: NC_000017.11:29615808:C:G,NC_000017.11:29615808:C:T
Gene:: CORO6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29615809C>G, NC_000017.11:g.29615809C>T, NC_000017.10:g.27942827C>G, NC_000017.10:g.27942827C>T, NG_054920.1:g.12100G>C, NG_054920.1:g.12100G>A, NM_032854.4:c.1342G>C, NM_032854.4:c.1342G>A, NM_032854.3:c.1342G>C, NM_032854.3:c.1342G>A, NM_001351302.3:c.637G>C, NM_001351302.3:c.637G>A, NM_001351302.2:c.637G>C, NM_001351302.2:c.637G>A, NM_001351302.1:c.637G>C, NM_001351302.1:c.637G>A, NM_001351301.3:c.637G>C, NM_001351301.3:c.637G>A, NM_001351301.2:c.637G>C, NM_001351301.2:c.637G>A, NM_001351301.1:c.637G>C, NM_001351301.1:c.637G>A, NR_170977.1:n.1665G>C, NR_170977.1:n.1665G>A, NR_170978.1:n.1632G>C, NR_170978.1:n.1632G>A, NM_001388434.1:c.1339G>C, NM_001388434.1:c.1339G>A, NM_001388431.1:c.1342G>C, NM_001388431.1:c.1342G>A, NM_001388433.1:c.1339G>C, NM_001388433.1:c.1339G>A, NM_001388435.1:c.1219G>C, NM_001388435.1:c.1219G>A, NM_001388436.1:c.1219G>C, NM_001388436.1:c.1219G>A, NM_001388437.1:c.1216G>C, NM_001388437.1:c.1216G>A, NM_001388438.1:c.1117G>C, NM_001388438.1:c.1117G>A, XM_011525386.4:c.1450G>C, XM_011525386.4:c.1450G>A, XM_011525386.3:c.1450G>C, XM_011525386.3:c.1450G>A, XM_011525386.2:c.1450G>C, XM_011525386.2:c.1450G>A, XM_011525386.1:c.1450G>C, XM_011525386.1:c.1450G>A, XM_011525387.4:c.1432G>C, XM_011525387.4:c.1432G>A, XM_011525387.3:c.1432G>C, XM_011525387.3:c.1432G>A, XM_011525387.2:c.1432G>C, XM_011525387.2:c.1432G>A, XM_011525387.1:c.1432G>C, XM_011525387.1:c.1432G>A, XM_011525390.4:c.640G>C, XM_011525390.4:c.640G>A, XM_011525390.3:c.640G>C, XM_011525390.3:c.640G>A, XM_011525390.2:c.640G>C, XM_011525390.2:c.640G>A, XM_011525390.1:c.640G>C, XM_011525390.1:c.640G>A, XM_011525391.4:c.640G>C, XM_011525391.4:c.640G>A, XM_011525391.3:c.640G>C, XM_011525391.3:c.640G>A, XM_011525391.2:c.640G>C, XM_011525391.2:c.640G>A, XM_011525391.1:c.640G>C, XM_011525391.1:c.640G>A, NP_116243.2:p.Glu448Gln, NP_116243.2:p.Glu448Lys, NP_001338231.1:p.Glu213Gln, NP_001338231.1:p.Glu213Lys, NP_001338230.1:p.Glu213Gln, NP_001338230.1:p.Glu213Lys, NP_001375363.1:p.Glu447Gln, NP_001375363.1:p.Glu447Lys, NP_001375360.1:p.Glu448Gln, NP_001375360.1:p.Glu448Lys, NP_001375362.1:p.Glu447Gln, NP_001375362.1:p.Glu447Lys, NP_001375364.1:p.Glu407Gln, NP_001375364.1:p.Glu407Lys, NP_001375365.1:p.Glu407Gln, NP_001375365.1:p.Glu407Lys, NP_001375366.1:p.Glu406Gln, NP_001375366.1:p.Glu406Lys, NP_001375367.1:p.Glu373Gln, NP_001375367.1:p.Glu373Lys, XP_011523688.1:p.Glu484Gln, XP_011523688.1:p.Glu484Lys, XP_011523689.1:p.Glu478Gln, XP_011523689.1:p.Glu478Lys, XP_011523692.1:p.Glu214Gln, XP_011523692.1:p.Glu214Lys, XP_011523693.1:p.Glu214Gln, XP_011523693.1:p.Glu214Lys

Select item 14859782452.

rs1485978245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:29615744 (GRCh38)
17:27942762 (GRCh37)
Canonical SPDI:: NC_000017.11:29615743:G:T
Gene:: CORO6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000017.11:g.29615744G>T, NC_000017.10:g.27942762G>T, NG_054920.1:g.12165C>A, NM_032854.4:c.1407C>A, NM_032854.3:c.1407C>A, NM_001351302.3:c.702C>A, NM_001351302.2:c.702C>A, NM_001351302.1:c.702C>A, NM_001351301.3:c.702C>A, NM_001351301.2:c.702C>A, NM_001351301.1:c.702C>A, NR_170977.1:n.1730C>A, NR_170978.1:n.1697C>A, NM_001388434.1:c.1404C>A, NM_001388431.1:c.1407C>A, NM_001388433.1:c.1404C>A, NM_001388435.1:c.1284C>A, NM_001388436.1:c.1284C>A, NM_001388437.1:c.1281C>A, NM_001388438.1:c.1182C>A, XM_011525386.4:c.1515C>A, XM_011525386.3:c.1515C>A, XM_011525386.2:c.1515C>A, XM_011525386.1:c.1515C>A, XM_011525387.4:c.1497C>A, XM_011525387.3:c.1497C>A, XM_011525387.2:c.1497C>A, XM_011525387.1:c.1497C>A, XM_011525390.4:c.705C>A, XM_011525390.3:c.705C>A, XM_011525390.2:c.705C>A, XM_011525390.1:c.705C>A, XM_011525391.4:c.705C>A, XM_011525391.3:c.705C>A, XM_011525391.2:c.705C>A, XM_011525391.1:c.705C>A, NP_116243.2:p.Asp469Glu, NP_001338231.1:p.Asp234Glu, NP_001338230.1:p.Asp234Glu, NP_001375363.1:p.Asp468Glu, NP_001375360.1:p.Asp469Glu, NP_001375362.1:p.Asp468Glu, NP_001375364.1:p.Asp428Glu, NP_001375365.1:p.Asp428Glu, NP_001375366.1:p.Asp427Glu, NP_001375367.1:p.Asp394Glu, XP_011523688.1:p.Asp505Glu, XP_011523689.1:p.Asp499Glu, XP_011523692.1:p.Asp235Glu, XP_011523693.1:p.Asp235Glu

Select item 14859310383.

rs1485931038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:29616053 (GRCh38)
17:27943071 (GRCh37)
Canonical SPDI:: NC_000017.11:29616052:A:G
Gene:: CORO6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616053A>G, NC_000017.10:g.27943071A>G, NG_054920.1:g.11856T>C, NM_032854.4:c.1185T>C, NM_032854.3:c.1185T>C, NM_001351302.3:c.483T>C, NM_001351302.2:c.483T>C, NM_001351302.1:c.483T>C, NM_001351301.3:c.483T>C, NM_001351301.2:c.483T>C, NM_001351301.1:c.483T>C, NR_170977.1:n.1511T>C, NR_170978.1:n.1478T>C, NM_001388434.1:c.1185T>C, NM_001388431.1:c.1185T>C, NM_001388433.1:c.1185T>C, NM_001388435.1:c.1062T>C, NM_001388436.1:c.1065T>C, NM_001388437.1:c.1062T>C, NM_001388438.1:c.960T>C, XM_011525386.4:c.1293T>C, XM_011525386.3:c.1293T>C, XM_011525386.2:c.1293T>C, XM_011525386.1:c.1293T>C, XM_011525387.4:c.1275T>C, XM_011525387.3:c.1275T>C, XM_011525387.2:c.1275T>C, XM_011525387.1:c.1275T>C, XM_011525390.4:c.483T>C, XM_011525390.3:c.483T>C, XM_011525390.2:c.483T>C, XM_011525390.1:c.483T>C, XM_011525391.4:c.483T>C, XM_011525391.3:c.483T>C, XM_011525391.2:c.483T>C, XM_011525391.1:c.483T>C, XM_011525388.3:c.*65T>C, XM_011525388.2:c.*65T>C, XM_011525388.1:c.*65T>C

Select item 14843570894.

rs1484357089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29615956 (GRCh38)
17:27942974 (GRCh37)
Canonical SPDI:: NC_000017.11:29615955:C:A
Gene:: CORO6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29615956C>A, NC_000017.10:g.27942974C>A, NG_054920.1:g.11953G>T, NM_032854.4:c.1282G>T, NM_032854.3:c.1282G>T, NM_001351302.3:c.580G>T, NM_001351302.2:c.580G>T, NM_001351302.1:c.580G>T, NM_001351301.3:c.580G>T, NM_001351301.2:c.580G>T, NM_001351301.1:c.580G>T, NR_170977.1:n.1608G>T, NR_170978.1:n.1575G>T, NM_001388434.1:c.1282G>T, NM_001388431.1:c.1282G>T, NM_001388433.1:c.1282G>T, NM_001388435.1:c.1159G>T, NM_001388436.1:c.1162G>T, NM_001388437.1:c.1159G>T, NM_001388438.1:c.1057G>T, XM_011525386.4:c.1390G>T, XM_011525386.3:c.1390G>T, XM_011525386.2:c.1390G>T, XM_011525386.1:c.1390G>T, XM_011525387.4:c.1372G>T, XM_011525387.3:c.1372G>T, XM_011525387.2:c.1372G>T, XM_011525387.1:c.1372G>T, XM_011525390.4:c.580G>T, XM_011525390.3:c.580G>T, XM_011525390.2:c.580G>T, XM_011525390.1:c.580G>T, XM_011525391.4:c.580G>T, XM_011525391.3:c.580G>T, XM_011525391.2:c.580G>T, XM_011525391.1:c.580G>T, NP_116243.2:p.Ala428Ser, NP_001338231.1:p.Ala194Ser, NP_001338230.1:p.Ala194Ser, NP_001375363.1:p.Ala428Ser, NP_001375360.1:p.Ala428Ser, NP_001375362.1:p.Ala428Ser, NP_001375364.1:p.Ala387Ser, NP_001375365.1:p.Ala388Ser, NP_001375366.1:p.Ala387Ser, NP_001375367.1:p.Ala353Ser, XP_011523688.1:p.Ala464Ser, XP_011523689.1:p.Ala458Ser, XP_011523692.1:p.Ala194Ser, XP_011523693.1:p.Ala194Ser

Select item 14789633215.

rs1478963321 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:29616775 (GRCh38)
17:27943793 (GRCh37)
Canonical SPDI:: NC_000017.11:29616774:T:
Gene:: CORO6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616775del, NC_000017.10:g.27943793del, NG_054920.1:g.11134del, NM_032854.4:c.931del, NM_032854.3:c.931del, NM_001351302.3:c.229del, NM_001351302.2:c.229del, NM_001351302.1:c.229del, NM_001351301.3:c.229del, NM_001351301.2:c.229del, NM_001351301.1:c.229del, NR_170977.1:n.1257del, NR_170978.1:n.1224del, NM_001388434.1:c.931del, NM_001388431.1:c.931del, NM_001388433.1:c.931del, NM_001388435.1:c.808del, NM_001388436.1:c.811del, NM_001388437.1:c.808del, NM_001388438.1:c.706del, XM_011525386.4:c.1039del, XM_011525386.3:c.1039del, XM_011525386.2:c.1039del, XM_011525386.1:c.1039del, XM_011525387.4:c.1021del, XM_011525387.3:c.1021del, XM_011525387.2:c.1021del, XM_011525387.1:c.1021del, XM_011525390.4:c.229del, XM_011525390.3:c.229del, XM_011525390.2:c.229del, XM_011525390.1:c.229del, XM_011525391.4:c.229del, XM_011525391.3:c.229del, XM_011525391.2:c.229del, XM_011525391.1:c.229del, XM_011525388.3:c.1144del, XM_011525388.2:c.1144del, XM_011525388.1:c.1144del, XM_047436948.1:c.*47del, NP_116243.2:p.Ser311fs, NP_001338231.1:p.Ser77fs, NP_001338230.1:p.Ser77fs, NP_001375363.1:p.Ser311fs, NP_001375360.1:p.Ser311fs, NP_001375362.1:p.Ser311fs, NP_001375364.1:p.Ser270fs, NP_001375365.1:p.Ser271fs, NP_001375366.1:p.Ser270fs, NP_001375367.1:p.Ser236fs, XP_011523688.1:p.Ser347fs, XP_011523689.1:p.Ser341fs, XP_011523692.1:p.Ser77fs, XP_011523693.1:p.Ser77fs, XP_011523690.1:p.Ser382fs

Select item 14785429686.

rs1478542968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29616805 (GRCh38)
17:27943823 (GRCh37)
Canonical SPDI:: NC_000017.11:29616804:G:A
Gene:: CORO6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616805G>A, NC_000017.10:g.27943823G>A, NG_054920.1:g.11104C>T, NM_032854.4:c.901C>T, NM_032854.3:c.901C>T, NM_001351302.3:c.199C>T, NM_001351302.2:c.199C>T, NM_001351302.1:c.199C>T, NM_001351301.3:c.199C>T, NM_001351301.2:c.199C>T, NM_001351301.1:c.199C>T, NR_170977.1:n.1227C>T, NR_170978.1:n.1194C>T, NM_001388434.1:c.901C>T, NM_001388431.1:c.901C>T, NM_001388433.1:c.901C>T, NM_001388435.1:c.778C>T, NM_001388436.1:c.781C>T, NM_001388437.1:c.778C>T, NM_001388438.1:c.676C>T, XM_011525386.4:c.1009C>T, XM_011525386.3:c.1009C>T, XM_011525386.2:c.1009C>T, XM_011525386.1:c.1009C>T, XM_011525387.4:c.991C>T, XM_011525387.3:c.991C>T, XM_011525387.2:c.991C>T, XM_011525387.1:c.991C>T, XM_011525390.4:c.199C>T, XM_011525390.3:c.199C>T, XM_011525390.2:c.199C>T, XM_011525390.1:c.199C>T, XM_011525391.4:c.199C>T, XM_011525391.3:c.199C>T, XM_011525391.2:c.199C>T, XM_011525391.1:c.199C>T, XM_011525388.3:c.1114C>T, XM_011525388.2:c.1114C>T, XM_011525388.1:c.1114C>T, XM_047436948.1:c.*17C>T, NP_116243.2:p.Pro301Ser, NP_001338231.1:p.Pro67Ser, NP_001338230.1:p.Pro67Ser, NP_001375363.1:p.Pro301Ser, NP_001375360.1:p.Pro301Ser, NP_001375362.1:p.Pro301Ser, NP_001375364.1:p.Pro260Ser, NP_001375365.1:p.Pro261Ser, NP_001375366.1:p.Pro260Ser, NP_001375367.1:p.Pro226Ser, XP_011523688.1:p.Pro337Ser, XP_011523689.1:p.Pro331Ser, XP_011523692.1:p.Pro67Ser, XP_011523693.1:p.Pro67Ser, XP_011523690.1:p.Pro372Ser

Select item 14668582967.

rs1466858296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:29616126 (GRCh38)
17:27943144 (GRCh37)
Canonical SPDI:: NC_000017.11:29616125:G:T
Gene:: CORO6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.29616126G>T, NC_000017.10:g.27943144G>T, NG_054920.1:g.11783C>A, NM_032854.4:c.1112C>A, NM_032854.3:c.1112C>A, NM_001351302.3:c.410C>A, NM_001351302.2:c.410C>A, NM_001351302.1:c.410C>A, NM_001351301.3:c.410C>A, NM_001351301.2:c.410C>A, NM_001351301.1:c.410C>A, NR_170977.1:n.1438C>A, NR_170978.1:n.1405C>A, NM_001388434.1:c.1112C>A, NM_001388431.1:c.1112C>A, NM_001388433.1:c.1112C>A, NM_001388435.1:c.989C>A, NM_001388436.1:c.992C>A, NM_001388437.1:c.989C>A, NM_001388438.1:c.887C>A, XM_011525386.4:c.1220C>A, XM_011525386.3:c.1220C>A, XM_011525386.2:c.1220C>A, XM_011525386.1:c.1220C>A, XM_011525387.4:c.1202C>A, XM_011525387.3:c.1202C>A, XM_011525387.2:c.1202C>A, XM_011525387.1:c.1202C>A, XM_011525390.4:c.410C>A, XM_011525390.3:c.410C>A, XM_011525390.2:c.410C>A, XM_011525390.1:c.410C>A, XM_011525391.4:c.410C>A, XM_011525391.3:c.410C>A, XM_011525391.2:c.410C>A, XM_011525391.1:c.410C>A, XM_011525388.3:c.1321C>A, XM_011525388.2:c.1321C>A, XM_011525388.1:c.1321C>A, NP_116243.2:p.Pro371Gln, NP_001338231.1:p.Pro137Gln, NP_001338230.1:p.Pro137Gln, NP_001375363.1:p.Pro371Gln, NP_001375360.1:p.Pro371Gln, NP_001375362.1:p.Pro371Gln, NP_001375364.1:p.Pro330Gln, NP_001375365.1:p.Pro331Gln, NP_001375366.1:p.Pro330Gln, NP_001375367.1:p.Pro296Gln, XP_011523688.1:p.Pro407Gln, XP_011523689.1:p.Pro401Gln, XP_011523692.1:p.Pro137Gln, XP_011523693.1:p.Pro137Gln

Select item 14658680648.

rs1465868064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29615818 (GRCh38)
17:27942836 (GRCh37)
Canonical SPDI:: NC_000017.11:29615817:C:T
Gene:: CORO6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.29615818C>T, NC_000017.10:g.27942836C>T, NG_054920.1:g.12091G>A, NM_032854.4:c.1333G>A, NM_032854.3:c.1333G>A, NM_001351302.3:c.628G>A, NM_001351302.2:c.628G>A, NM_001351302.1:c.628G>A, NM_001351301.3:c.628G>A, NM_001351301.2:c.628G>A, NM_001351301.1:c.628G>A, NR_170977.1:n.1656G>A, NR_170978.1:n.1623G>A, NM_001388434.1:c.1330G>A, NM_001388431.1:c.1333G>A, NM_001388433.1:c.1330G>A, NM_001388435.1:c.1210G>A, NM_001388436.1:c.1210G>A, NM_001388437.1:c.1207G>A, NM_001388438.1:c.1108G>A, XM_011525386.4:c.1441G>A, XM_011525386.3:c.1441G>A, XM_011525386.2:c.1441G>A, XM_011525386.1:c.1441G>A, XM_011525387.4:c.1423G>A, XM_011525387.3:c.1423G>A, XM_011525387.2:c.1423G>A, XM_011525387.1:c.1423G>A, XM_011525390.4:c.631G>A, XM_011525390.3:c.631G>A, XM_011525390.2:c.631G>A, XM_011525390.1:c.631G>A, XM_011525391.4:c.631G>A, XM_011525391.3:c.631G>A, XM_011525391.2:c.631G>A, XM_011525391.1:c.631G>A, NP_116243.2:p.Ala445Thr, NP_001338231.1:p.Ala210Thr, NP_001338230.1:p.Ala210Thr, NP_001375363.1:p.Ala444Thr, NP_001375360.1:p.Ala445Thr, NP_001375362.1:p.Ala444Thr, NP_001375364.1:p.Ala404Thr, NP_001375365.1:p.Ala404Thr, NP_001375366.1:p.Ala403Thr, NP_001375367.1:p.Ala370Thr, XP_011523688.1:p.Ala481Thr, XP_011523689.1:p.Ala475Thr, XP_011523692.1:p.Ala211Thr, XP_011523693.1:p.Ala211Thr

Select item 14614961959.

rs1461496195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29615952 (GRCh38)
17:27942970 (GRCh37)
Canonical SPDI:: NC_000017.11:29615951:G:A
Gene:: CORO6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.29615952G>A, NC_000017.10:g.27942970G>A, NG_054920.1:g.11957C>T, NM_032854.4:c.1286C>T, NM_032854.3:c.1286C>T, NM_001351302.3:c.584C>T, NM_001351302.2:c.584C>T, NM_001351302.1:c.584C>T, NM_001351301.3:c.584C>T, NM_001351301.2:c.584C>T, NM_001351301.1:c.584C>T, NR_170977.1:n.1612C>T, NR_170978.1:n.1579C>T, NM_001388434.1:c.1286C>T, NM_001388431.1:c.1286C>T, NM_001388433.1:c.1286C>T, NM_001388435.1:c.1163C>T, NM_001388436.1:c.1166C>T, NM_001388437.1:c.1163C>T, NM_001388438.1:c.1061C>T, XM_011525386.4:c.1394C>T, XM_011525386.3:c.1394C>T, XM_011525386.2:c.1394C>T, XM_011525386.1:c.1394C>T, XM_011525387.4:c.1376C>T, XM_011525387.3:c.1376C>T, XM_011525387.2:c.1376C>T, XM_011525387.1:c.1376C>T, XM_011525390.4:c.584C>T, XM_011525390.3:c.584C>T, XM_011525390.2:c.584C>T, XM_011525390.1:c.584C>T, XM_011525391.4:c.584C>T, XM_011525391.3:c.584C>T, XM_011525391.2:c.584C>T, XM_011525391.1:c.584C>T, NP_116243.2:p.Pro429Leu, NP_001338231.1:p.Pro195Leu, NP_001338230.1:p.Pro195Leu, NP_001375363.1:p.Pro429Leu, NP_001375360.1:p.Pro429Leu, NP_001375362.1:p.Pro429Leu, NP_001375364.1:p.Pro388Leu, NP_001375365.1:p.Pro389Leu, NP_001375366.1:p.Pro388Leu, NP_001375367.1:p.Pro354Leu, XP_011523688.1:p.Pro465Leu, XP_011523689.1:p.Pro459Leu, XP_011523692.1:p.Pro195Leu, XP_011523693.1:p.Pro195Leu

Select item 145705442510.

rs1457054425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29617037 (GRCh38)
17:27944055 (GRCh37)
Canonical SPDI:: NC_000017.11:29617036:G:A
Gene:: CORO6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29617037G>A, NC_000017.10:g.27944055G>A, NG_054920.1:g.10872C>T, NM_032854.4:c.759C>T, NM_032854.3:c.759C>T, NM_001351302.3:c.57C>T, NM_001351302.2:c.57C>T, NM_001351302.1:c.57C>T, NM_001351301.3:c.57C>T, NM_001351301.2:c.57C>T, NM_001351301.1:c.57C>T, NR_170977.1:n.1085C>T, NR_170978.1:n.1052C>T, NM_001388434.1:c.759C>T, NM_001388431.1:c.759C>T, NM_001388433.1:c.759C>T, NM_001388435.1:c.636C>T, NM_001388436.1:c.639C>T, NM_001388437.1:c.636C>T, XM_011525387.4:c.849C>T, XM_011525387.3:c.849C>T, XM_011525387.2:c.849C>T, XM_011525387.1:c.849C>T, XM_011525390.4:c.57C>T, XM_011525390.3:c.57C>T, XM_011525390.2:c.57C>T, XM_011525390.1:c.57C>T, XM_011525391.4:c.57C>T, XM_011525391.3:c.57C>T, XM_011525391.2:c.57C>T, XM_011525391.1:c.57C>T, XM_011525388.3:c.972C>T, XM_011525388.2:c.972C>T, XM_011525388.1:c.972C>T, XM_047436948.1:c.1093C>T, XP_047292904.1:p.Leu365Phe

Select item 144624391011.

rs1446243910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29617006 (GRCh38)
17:27944024 (GRCh37)
Canonical SPDI:: NC_000017.11:29617005:C:T
Gene:: CORO6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.29617006C>T, NC_000017.10:g.27944024C>T, NG_054920.1:g.10903G>A, NM_032854.4:c.790G>A, NM_032854.3:c.790G>A, NM_001351302.3:c.88G>A, NM_001351302.2:c.88G>A, NM_001351302.1:c.88G>A, NM_001351301.3:c.88G>A, NM_001351301.2:c.88G>A, NM_001351301.1:c.88G>A, NR_170977.1:n.1116G>A, NR_170978.1:n.1083G>A, NM_001388434.1:c.790G>A, NM_001388431.1:c.790G>A, NM_001388433.1:c.790G>A, NM_001388435.1:c.667G>A, NM_001388436.1:c.670G>A, NM_001388437.1:c.667G>A, XM_011525387.4:c.880G>A, XM_011525387.3:c.880G>A, XM_011525387.2:c.880G>A, XM_011525387.1:c.880G>A, XM_011525390.4:c.88G>A, XM_011525390.3:c.88G>A, XM_011525390.2:c.88G>A, XM_011525390.1:c.88G>A, XM_011525391.4:c.88G>A, XM_011525391.3:c.88G>A, XM_011525391.2:c.88G>A, XM_011525391.1:c.88G>A, XM_011525388.3:c.1003G>A, XM_011525388.2:c.1003G>A, XM_011525388.1:c.1003G>A, XM_047436948.1:c.1124G>A, NP_116243.2:p.Asp264Asn, NP_001338231.1:p.Asp30Asn, NP_001338230.1:p.Asp30Asn, NP_001375363.1:p.Asp264Asn, NP_001375360.1:p.Asp264Asn, NP_001375362.1:p.Asp264Asn, NP_001375364.1:p.Asp223Asn, NP_001375365.1:p.Asp224Asn, NP_001375366.1:p.Asp223Asn, XP_011523689.1:p.Asp294Asn, XP_011523692.1:p.Asp30Asn, XP_011523693.1:p.Asp30Asn, XP_011523690.1:p.Asp335Asn, XP_047292904.1:p.Gly375Glu

Select item 142905769012.

rs1429057690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29616827 (GRCh38)
17:27943845 (GRCh37)
Canonical SPDI:: NC_000017.11:29616826:G:A
Gene:: CORO6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616827G>A, NC_000017.10:g.27943845G>A, NG_054920.1:g.11082C>T, NM_032854.4:c.879C>T, NM_032854.3:c.879C>T, NM_001351302.3:c.177C>T, NM_001351302.2:c.177C>T, NM_001351302.1:c.177C>T, NM_001351301.3:c.177C>T, NM_001351301.2:c.177C>T, NM_001351301.1:c.177C>T, NR_170977.1:n.1205C>T, NR_170978.1:n.1172C>T, NM_001388434.1:c.879C>T, NM_001388431.1:c.879C>T, NM_001388433.1:c.879C>T, NM_001388435.1:c.756C>T, NM_001388436.1:c.759C>T, NM_001388437.1:c.756C>T, NM_001388438.1:c.654C>T, XM_011525386.4:c.987C>T, XM_011525386.3:c.987C>T, XM_011525386.2:c.987C>T, XM_011525386.1:c.987C>T, XM_011525387.4:c.969C>T, XM_011525387.3:c.969C>T, XM_011525387.2:c.969C>T, XM_011525387.1:c.969C>T, XM_011525390.4:c.177C>T, XM_011525390.3:c.177C>T, XM_011525390.2:c.177C>T, XM_011525390.1:c.177C>T, XM_011525391.4:c.177C>T, XM_011525391.3:c.177C>T, XM_011525391.2:c.177C>T, XM_011525391.1:c.177C>T, XM_011525388.3:c.1092C>T, XM_011525388.2:c.1092C>T, XM_011525388.1:c.1092C>T, XM_047436948.1:c.1213C>T, XP_047292904.1:p.Leu405Phe

Select item 142842807113.

rs1428428071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:29617280 (GRCh38)
17:27944299 (GRCh37)
Canonical SPDI:: NC_000017.11:29617280:GGG:GGGG
Gene:: CORO6 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.29617283dup, NC_000017.10:g.27944301dup, NG_054920.1:g.10628dup, NM_001351302.3:c.12dup, NM_001351302.2:c.12dup, NM_001351302.1:c.12dup, NM_001351301.3:c.12dup, NM_001351301.2:c.12dup, NM_001351301.1:c.12dup, NR_170977.1:n.1040dup, NR_170978.1:n.1007dup, XM_011525390.4:c.12dup, XM_011525390.3:c.12dup, XM_011525390.2:c.12dup, XM_011525390.1:c.12dup, XM_011525391.4:c.12dup, XM_011525391.3:c.12dup, XM_011525391.2:c.12dup, XM_011525391.1:c.12dup, XM_047436948.1:c.1048dup, NP_001338231.1:p.Trp5fs, NP_001338230.1:p.Trp5fs, XP_011523692.1:p.Trp5fs, XP_011523693.1:p.Trp5fs, XP_047292904.1:p.Leu350fs

Select item 142662548314.

rs1426625483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29616735 (GRCh38)
17:27943753 (GRCh37)
Canonical SPDI:: NC_000017.11:29616734:C:T
Gene:: CORO6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.29616735C>T, NC_000017.10:g.27943753C>T, NG_054920.1:g.11174G>A, NM_032854.4:c.971G>A, NM_032854.3:c.971G>A, NM_001351302.3:c.269G>A, NM_001351302.2:c.269G>A, NM_001351302.1:c.269G>A, NM_001351301.3:c.269G>A, NM_001351301.2:c.269G>A, NM_001351301.1:c.269G>A, NR_170977.1:n.1297G>A, NR_170978.1:n.1264G>A, NM_001388434.1:c.971G>A, NM_001388431.1:c.971G>A, NM_001388433.1:c.971G>A, NM_001388435.1:c.848G>A, NM_001388436.1:c.851G>A, NM_001388437.1:c.848G>A, NM_001388438.1:c.746G>A, XM_011525386.4:c.1079G>A, XM_011525386.3:c.1079G>A, XM_011525386.2:c.1079G>A, XM_011525386.1:c.1079G>A, XM_011525387.4:c.1061G>A, XM_011525387.3:c.1061G>A, XM_011525387.2:c.1061G>A, XM_011525387.1:c.1061G>A, XM_011525390.4:c.269G>A, XM_011525390.3:c.269G>A, XM_011525390.2:c.269G>A, XM_011525390.1:c.269G>A, XM_011525391.4:c.269G>A, XM_011525391.3:c.269G>A, XM_011525391.2:c.269G>A, XM_011525391.1:c.269G>A, XM_011525388.3:c.1184G>A, XM_011525388.2:c.1184G>A, XM_011525388.1:c.1184G>A, XM_047436948.1:c.*87G>A, NP_116243.2:p.Arg324Lys, NP_001338231.1:p.Arg90Lys, NP_001338230.1:p.Arg90Lys, NP_001375363.1:p.Arg324Lys, NP_001375360.1:p.Arg324Lys, NP_001375362.1:p.Arg324Lys, NP_001375364.1:p.Arg283Lys, NP_001375365.1:p.Arg284Lys, NP_001375366.1:p.Arg283Lys, NP_001375367.1:p.Arg249Lys, XP_011523688.1:p.Arg360Lys, XP_011523689.1:p.Arg354Lys, XP_011523692.1:p.Arg90Lys, XP_011523693.1:p.Arg90Lys, XP_011523690.1:p.Arg395Lys

Select item 142210787815.

rs1422107878 has merged into rs1171814105 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 17:29617275 (GRCh38)
17:27944293 (GRCh37)
Canonical SPDI:: NC_000017.11:29617274:CCCCC:CCCC,NC_000017.11:29617274:CCCCC:CCCCCC
Gene:: CORO6 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000015/2 (GnomAD_exomes)
-=0.000318/5 (TOMMO)
HGVS:: NC_000017.11:g.29617279del, NC_000017.11:g.29617279dup, NC_000017.10:g.27944297del, NC_000017.10:g.27944297dup, NG_054920.1:g.10634del, NG_054920.1:g.10634dup, NM_001351302.3:c.18del, NM_001351302.3:c.18dup, NM_001351302.2:c.18del, NM_001351302.2:c.18dup, NM_001351302.1:c.18del, NM_001351302.1:c.18dup, NM_001351301.3:c.18del, NM_001351301.3:c.18dup, NM_001351301.2:c.18del, NM_001351301.2:c.18dup, NM_001351301.1:c.18del, NM_001351301.1:c.18dup, NR_170977.1:n.1046del, NR_170977.1:n.1046dup, NR_170978.1:n.1013del, NR_170978.1:n.1013dup, XM_011525390.4:c.18del, XM_011525390.4:c.18dup, XM_011525390.3:c.18del, XM_011525390.3:c.18dup, XM_011525390.2:c.18del, XM_011525390.2:c.18dup, XM_011525390.1:c.18del, XM_011525390.1:c.18dup, XM_011525391.4:c.18del, XM_011525391.4:c.18dup, XM_011525391.3:c.18del, XM_011525391.3:c.18dup, XM_011525391.2:c.18del, XM_011525391.2:c.18dup, XM_011525391.1:c.18del, XM_011525391.1:c.18dup, XM_047436948.1:c.1054del, XM_047436948.1:c.1054dup, NP_001338231.1:p.Trp7fs, NP_001338231.1:p.Trp7fs, NP_001338230.1:p.Trp7fs, NP_001338230.1:p.Trp7fs, XP_011523692.1:p.Trp7fs, XP_011523692.1:p.Trp7fs, XP_011523693.1:p.Trp7fs, XP_011523693.1:p.Trp7fs, XP_047292904.1:p.Val352fs, XP_047292904.1:p.Val352fs

Select item 141512785916.

rs1415127859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29616963 (GRCh38)
17:27943981 (GRCh37)
Canonical SPDI:: NC_000017.11:29616962:G:C
Gene:: CORO6 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616963G>C, NC_000017.10:g.27943981G>C, NG_054920.1:g.10946C>G, NM_032854.4:c.833C>G, NM_032854.3:c.833C>G, NM_001351302.3:c.131C>G, NM_001351302.2:c.131C>G, NM_001351302.1:c.131C>G, NM_001351301.3:c.131C>G, NM_001351301.2:c.131C>G, NM_001351301.1:c.131C>G, NR_170977.1:n.1159C>G, NR_170978.1:n.1126C>G, NM_001388434.1:c.833C>G, NM_001388431.1:c.833C>G, NM_001388433.1:c.833C>G, NM_001388435.1:c.710C>G, NM_001388436.1:c.713C>G, NM_001388437.1:c.710C>G, XM_011525387.4:c.923C>G, XM_011525387.3:c.923C>G, XM_011525387.2:c.923C>G, XM_011525387.1:c.923C>G, XM_011525390.4:c.131C>G, XM_011525390.3:c.131C>G, XM_011525390.2:c.131C>G, XM_011525390.1:c.131C>G, XM_011525391.4:c.131C>G, XM_011525391.3:c.131C>G, XM_011525391.2:c.131C>G, XM_011525391.1:c.131C>G, XM_011525388.3:c.1046C>G, XM_011525388.2:c.1046C>G, XM_011525388.1:c.1046C>G, XM_047436948.1:c.1167C>G, NP_116243.2:p.Ser278Cys, NP_001338231.1:p.Ser44Cys, NP_001338230.1:p.Ser44Cys, NP_001375363.1:p.Ser278Cys, NP_001375360.1:p.Ser278Cys, NP_001375362.1:p.Ser278Cys, NP_001375364.1:p.Ser237Cys, NP_001375365.1:p.Ser238Cys, NP_001375366.1:p.Ser237Cys, XP_011523689.1:p.Ser308Cys, XP_011523692.1:p.Ser44Cys, XP_011523693.1:p.Ser44Cys, XP_011523690.1:p.Ser349Cys

Select item 140950410117.

rs1409504101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:29616134 (GRCh38)
17:27943152 (GRCh37)
Canonical SPDI:: NC_000017.11:29616133:G:T
Gene:: CORO6 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616134G>T, NC_000017.10:g.27943152G>T, NG_054920.1:g.11775C>A, NM_032854.4:c.1104C>A, NM_032854.3:c.1104C>A, NM_001351302.3:c.402C>A, NM_001351302.2:c.402C>A, NM_001351302.1:c.402C>A, NM_001351301.3:c.402C>A, NM_001351301.2:c.402C>A, NM_001351301.1:c.402C>A, NR_170977.1:n.1430C>A, NR_170978.1:n.1397C>A, NM_001388434.1:c.1104C>A, NM_001388431.1:c.1104C>A, NM_001388433.1:c.1104C>A, NM_001388435.1:c.981C>A, NM_001388436.1:c.984C>A, NM_001388437.1:c.981C>A, NM_001388438.1:c.879C>A, XM_011525386.4:c.1212C>A, XM_011525386.3:c.1212C>A, XM_011525386.2:c.1212C>A, XM_011525386.1:c.1212C>A, XM_011525387.4:c.1194C>A, XM_011525387.3:c.1194C>A, XM_011525387.2:c.1194C>A, XM_011525387.1:c.1194C>A, XM_011525390.4:c.402C>A, XM_011525390.3:c.402C>A, XM_011525390.2:c.402C>A, XM_011525390.1:c.402C>A, XM_011525391.4:c.402C>A, XM_011525391.3:c.402C>A, XM_011525391.2:c.402C>A, XM_011525391.1:c.402C>A, XM_011525388.3:c.1313C>A, XM_011525388.2:c.1313C>A, XM_011525388.1:c.1313C>A, XP_011523690.1:p.Ala438Asp

Select item 140610834018.

rs1406108340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29615785 (GRCh38)
17:27942803 (GRCh37)
Canonical SPDI:: NC_000017.11:29615784:G:A
Gene:: CORO6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.29615785G>A, NC_000017.10:g.27942803G>A, NG_054920.1:g.12124C>T, NM_032854.4:c.1366C>T, NM_032854.3:c.1366C>T, NM_001351302.3:c.661C>T, NM_001351302.2:c.661C>T, NM_001351302.1:c.661C>T, NM_001351301.3:c.661C>T, NM_001351301.2:c.661C>T, NM_001351301.1:c.661C>T, NR_170977.1:n.1689C>T, NR_170978.1:n.1656C>T, NM_001388434.1:c.1363C>T, NM_001388431.1:c.1366C>T, NM_001388433.1:c.1363C>T, NM_001388435.1:c.1243C>T, NM_001388436.1:c.1243C>T, NM_001388437.1:c.1240C>T, NM_001388438.1:c.1141C>T, XM_011525386.4:c.1474C>T, XM_011525386.3:c.1474C>T, XM_011525386.2:c.1474C>T, XM_011525386.1:c.1474C>T, XM_011525387.4:c.1456C>T, XM_011525387.3:c.1456C>T, XM_011525387.2:c.1456C>T, XM_011525387.1:c.1456C>T, XM_011525390.4:c.664C>T, XM_011525390.3:c.664C>T, XM_011525390.2:c.664C>T, XM_011525390.1:c.664C>T, XM_011525391.4:c.664C>T, XM_011525391.3:c.664C>T, XM_011525391.2:c.664C>T, XM_011525391.1:c.664C>T, NP_116243.2:p.Arg456Cys, NP_001338231.1:p.Arg221Cys, NP_001338230.1:p.Arg221Cys, NP_001375363.1:p.Arg455Cys, NP_001375360.1:p.Arg456Cys, NP_001375362.1:p.Arg455Cys, NP_001375364.1:p.Arg415Cys, NP_001375365.1:p.Arg415Cys, NP_001375366.1:p.Arg414Cys, NP_001375367.1:p.Arg381Cys, XP_011523688.1:p.Arg492Cys, XP_011523689.1:p.Arg486Cys, XP_011523692.1:p.Arg222Cys, XP_011523693.1:p.Arg222Cys

Select item 139479226119.

rs1394792261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29616125 (GRCh38)
17:27943143 (GRCh37)
Canonical SPDI:: NC_000017.11:29616124:C:A
Gene:: CORO6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29616125C>A, NC_000017.10:g.27943143C>A, NG_054920.1:g.11784G>T, NM_032854.4:c.1113G>T, NM_032854.3:c.1113G>T, NM_001351302.3:c.411G>T, NM_001351302.2:c.411G>T, NM_001351302.1:c.411G>T, NM_001351301.3:c.411G>T, NM_001351301.2:c.411G>T, NM_001351301.1:c.411G>T, NR_170977.1:n.1439G>T, NR_170978.1:n.1406G>T, NM_001388434.1:c.1113G>T, NM_001388431.1:c.1113G>T, NM_001388433.1:c.1113G>T, NM_001388435.1:c.990G>T, NM_001388436.1:c.993G>T, NM_001388437.1:c.990G>T, NM_001388438.1:c.888G>T, XM_011525386.4:c.1221G>T, XM_011525386.3:c.1221G>T, XM_011525386.2:c.1221G>T, XM_011525386.1:c.1221G>T, XM_011525387.4:c.1203G>T, XM_011525387.3:c.1203G>T, XM_011525387.2:c.1203G>T, XM_011525387.1:c.1203G>T, XM_011525390.4:c.411G>T, XM_011525390.3:c.411G>T, XM_011525390.2:c.411G>T, XM_011525390.1:c.411G>T, XM_011525391.4:c.411G>T, XM_011525391.3:c.411G>T, XM_011525391.2:c.411G>T, XM_011525391.1:c.411G>T, XM_011525388.3:c.1322G>T, XM_011525388.2:c.1322G>T, XM_011525388.1:c.1322G>T, XP_011523690.1:p.Arg441Leu

Select item 139349809720.

rs1393498097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29615820 (GRCh38)
17:27942838 (GRCh37)
Canonical SPDI:: NC_000017.11:29615819:T:C
Gene:: CORO6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.29615820T>C, NC_000017.10:g.27942838T>C, NG_054920.1:g.12089A>G, NM_032854.4:c.1331A>G, NM_032854.3:c.1331A>G, NM_001351302.3:c.626A>G, NM_001351302.2:c.626A>G, NM_001351302.1:c.626A>G, NM_001351301.3:c.626A>G, NM_001351301.2:c.626A>G, NM_001351301.1:c.626A>G, NR_170977.1:n.1654A>G, NR_170978.1:n.1621A>G, NM_001388434.1:c.1328A>G, NM_001388431.1:c.1331A>G, NM_001388433.1:c.1328A>G, NM_001388435.1:c.1208A>G, NM_001388436.1:c.1208A>G, NM_001388437.1:c.1205A>G, NM_001388438.1:c.1106A>G, XM_011525386.4:c.1439A>G, XM_011525386.3:c.1439A>G, XM_011525386.2:c.1439A>G, XM_011525386.1:c.1439A>G, XM_011525387.4:c.1421A>G, XM_011525387.3:c.1421A>G, XM_011525387.2:c.1421A>G, XM_011525387.1:c.1421A>G, XM_011525390.4:c.629A>G, XM_011525390.3:c.629A>G, XM_011525390.2:c.629A>G, XM_011525390.1:c.629A>G, XM_011525391.4:c.629A>G, XM_011525391.3:c.629A>G, XM_011525391.2:c.629A>G, XM_011525391.1:c.629A>G, NP_116243.2:p.Lys444Arg, NP_001338231.1:p.Lys209Arg, NP_001338230.1:p.Lys209Arg, NP_001375363.1:p.Lys443Arg, NP_001375360.1:p.Lys444Arg, NP_001375362.1:p.Lys443Arg, NP_001375364.1:p.Lys403Arg, NP_001375365.1:p.Lys403Arg, NP_001375366.1:p.Lys402Arg, NP_001375367.1:p.Lys369Arg, XP_011523688.1:p.Lys480Arg, XP_011523689.1:p.Lys474Arg, XP_011523692.1:p.Lys210Arg, XP_011523693.1:p.Lys210Arg

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