SNP Links for Protein (Select 767983215) - SNP

Links from Protein

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Select item 14825431701.

rs1482543170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43595976 (GRCh38)
15:43888174 (GRCh37)
Canonical SPDI:: NC_000015.10:43595975:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43595976C>T, NC_000015.9:g.43888174C>T, NM_020990.5:c.565C>T, NM_020990.4:c.565C>T, NM_020990.3:c.565C>T, XM_005254150.5:c.88C>T, XM_005254150.4:c.88C>T, XM_005254150.3:c.88C>T, XM_005254150.2:c.88C>T, XM_005254150.1:c.88C>T, XM_011521195.3:c.658C>T, XM_011521195.2:c.658C>T, XM_011521195.1:c.658C>T, NR_135750.2:n.1154C>T, NR_135750.1:n.1154C>T, XM_011521194.2:c.658C>T, XM_011521194.1:c.658C>T, XM_011521196.2:c.658C>T, XM_011521196.1:c.658C>T, NR_135748.1:n.1203C>T, NR_135749.1:n.1183C>T, NR_135751.1:n.1043C>T, NR_135752.1:n.810C>T, XM_047432132.1:c.565C>T, XM_047432133.1:c.565C>T, NM_001375484.1:c.565C>T, XM_047432134.1:c.614C>T, NP_066270.1:p.Arg189Cys, XP_005254207.1:p.Arg30Cys, XP_011519497.1:p.Arg220Cys, XP_011519496.1:p.Arg220Cys, XP_011519498.1:p.Arg220Cys, XP_047288088.1:p.Arg189Cys, XP_047288089.1:p.Arg189Cys, NP_001362413.1:p.Arg189Cys, XP_047288090.1:p.Thr205Met

Select item 14801526282.

rs1480152628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43598944 (GRCh38)
15:43891142 (GRCh37)
Canonical SPDI:: NC_000015.10:43598943:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43598944A>G, NC_000015.9:g.43891142A>G, NG_011636.1:g.24857T>C, NM_020990.5:c.1129A>G, NM_020990.4:c.1129A>G, NM_020990.3:c.1129A>G, XM_005254150.5:c.652A>G, XM_005254150.4:c.652A>G, XM_005254150.3:c.652A>G, XM_005254150.2:c.652A>G, XM_005254150.1:c.652A>G, XM_011521195.3:c.1222A>G, XM_011521195.2:c.1222A>G, XM_011521195.1:c.1222A>G, NR_135750.2:n.2535A>G, NR_135750.1:n.2535A>G, XM_011521194.2:c.1222A>G, XM_011521194.1:c.1222A>G, XM_011521196.2:c.1222A>G, XM_011521196.1:c.1222A>G, NR_135748.1:n.2584A>G, NR_135749.1:n.2564A>G, NR_135751.1:n.2424A>G, NR_135752.1:n.2191A>G, XM_047432132.1:c.1129A>G, XM_047432133.1:c.1129A>G, NM_001375484.1:c.1129A>G, NP_066270.1:p.Lys377Glu, XP_005254207.1:p.Lys218Glu, XP_011519497.1:p.Lys408Glu, XP_011519496.1:p.Lys408Glu, XP_011519498.1:p.Lys408Glu, XP_047288088.1:p.Lys377Glu, XP_047288089.1:p.Lys377Glu, NP_001362413.1:p.Lys377Glu

Select item 14789654593.

rs1478965459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:43596522 (GRCh38)
15:43888720 (GRCh37)
Canonical SPDI:: NC_000015.10:43596521:C:A
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.43596522C>A, NC_000015.9:g.43888720C>A, NM_020990.5:c.867C>A, NM_020990.4:c.867C>A, NM_020990.3:c.867C>A, XM_005254150.5:c.390C>A, XM_005254150.4:c.390C>A, XM_005254150.3:c.390C>A, XM_005254150.2:c.390C>A, XM_005254150.1:c.390C>A, XM_011521195.3:c.960C>A, XM_011521195.2:c.960C>A, XM_011521195.1:c.960C>A, NR_135750.2:n.1456C>A, NR_135750.1:n.1456C>A, XM_011521194.2:c.960C>A, XM_011521194.1:c.960C>A, XM_011521196.2:c.960C>A, XM_011521196.1:c.960C>A, NR_135748.1:n.1505C>A, NR_135749.1:n.1485C>A, NR_135751.1:n.1345C>A, NR_135752.1:n.1112C>A, XM_047432132.1:c.867C>A, XM_047432133.1:c.867C>A, NM_001375484.1:c.867C>A

Select item 14783213714.

rs1478321371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43596521 (GRCh38)
15:43888719 (GRCh37)
Canonical SPDI:: NC_000015.10:43596520:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43596521G>A, NC_000015.9:g.43888719G>A, NM_020990.5:c.866G>A, NM_020990.4:c.866G>A, NM_020990.3:c.866G>A, XM_005254150.5:c.389G>A, XM_005254150.4:c.389G>A, XM_005254150.3:c.389G>A, XM_005254150.2:c.389G>A, XM_005254150.1:c.389G>A, XM_011521195.3:c.959G>A, XM_011521195.2:c.959G>A, XM_011521195.1:c.959G>A, NR_135750.2:n.1455G>A, NR_135750.1:n.1455G>A, XM_011521194.2:c.959G>A, XM_011521194.1:c.959G>A, XM_011521196.2:c.959G>A, XM_011521196.1:c.959G>A, NR_135748.1:n.1504G>A, NR_135749.1:n.1484G>A, NR_135751.1:n.1344G>A, NR_135752.1:n.1111G>A, XM_047432132.1:c.866G>A, XM_047432133.1:c.866G>A, NM_001375484.1:c.866G>A, NP_066270.1:p.Gly289Asp, XP_005254207.1:p.Gly130Asp, XP_011519497.1:p.Gly320Asp, XP_011519496.1:p.Gly320Asp, XP_011519498.1:p.Gly320Asp, XP_047288088.1:p.Gly289Asp, XP_047288089.1:p.Gly289Asp, NP_001362413.1:p.Gly289Asp

Select item 14778836975.

rs1477883697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43599171 (GRCh38)
15:43891369 (GRCh37)
Canonical SPDI:: NC_000015.10:43599170:A:G
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43599171A>G, NC_000015.9:g.43891369A>G, NG_011636.1:g.24630T>C, NM_020990.5:c.1152A>G, NM_020990.4:c.1152A>G, NM_020990.3:c.1152A>G, XM_005254150.5:c.675A>G, XM_005254150.4:c.675A>G, XM_005254150.3:c.675A>G, XM_005254150.2:c.675A>G, XM_005254150.1:c.675A>G, XM_011521195.3:c.1245A>G, XM_011521195.2:c.1245A>G, XM_011521195.1:c.1245A>G, NR_135750.2:n.2558A>G, NR_135750.1:n.2558A>G, XM_011521194.2:c.1245A>G, XM_011521194.1:c.1245A>G, XM_011521196.2:c.1245A>G, XM_011521196.1:c.1245A>G, NR_135748.1:n.2607A>G, NR_135749.1:n.2587A>G, NR_135751.1:n.2447A>G, NR_135752.1:n.2214A>G, XM_047432132.1:c.1152A>G, XM_047432133.1:c.1152A>G, NM_001375484.1:c.1152A>G

Select item 14718867086.

rs1471886708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:43599241 (GRCh38)
15:43891439 (GRCh37)
Canonical SPDI:: NC_000015.10:43599240:A:T
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43599241A>T, NC_000015.9:g.43891439A>T, NG_011636.1:g.24560T>A, NM_020990.5:c.1222A>T, NM_020990.4:c.1222A>T, NM_020990.3:c.1222A>T, XM_005254150.5:c.745A>T, XM_005254150.4:c.745A>T, XM_005254150.3:c.745A>T, XM_005254150.2:c.745A>T, XM_005254150.1:c.745A>T, XM_011521195.3:c.1315A>T, XM_011521195.2:c.1315A>T, XM_011521195.1:c.1315A>T, NR_135750.2:n.2628A>T, NR_135750.1:n.2628A>T, XM_011521194.2:c.1315A>T, XM_011521194.1:c.1315A>T, XM_011521196.2:c.1315A>T, XM_011521196.1:c.1315A>T, NR_135748.1:n.2677A>T, NR_135749.1:n.2657A>T, NR_135751.1:n.2517A>T, NR_135752.1:n.2284A>T, XM_047432132.1:c.1222A>T, XM_047432133.1:c.1222A>T, NM_001375484.1:c.1222A>T, NP_066270.1:p.Ile408Phe, XP_005254207.1:p.Ile249Phe, XP_011519497.1:p.Ile439Phe, XP_011519496.1:p.Ile439Phe, XP_011519498.1:p.Ile439Phe, XP_047288088.1:p.Ile408Phe, XP_047288089.1:p.Ile408Phe, NP_001362413.1:p.Ile408Phe

Select item 14702910147.

rs1470291014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43598886 (GRCh38)
15:43891084 (GRCh37)
Canonical SPDI:: NC_000015.10:43598885:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43598886A>G, NC_000015.9:g.43891084A>G, NG_011636.1:g.24915T>C, NM_020990.5:c.1071A>G, NM_020990.4:c.1071A>G, NM_020990.3:c.1071A>G, XM_005254150.5:c.594A>G, XM_005254150.4:c.594A>G, XM_005254150.3:c.594A>G, XM_005254150.2:c.594A>G, XM_005254150.1:c.594A>G, XM_011521195.3:c.1164A>G, XM_011521195.2:c.1164A>G, XM_011521195.1:c.1164A>G, NR_135750.2:n.2477A>G, NR_135750.1:n.2477A>G, XM_011521194.2:c.1164A>G, XM_011521194.1:c.1164A>G, XM_011521196.2:c.1164A>G, XM_011521196.1:c.1164A>G, NR_135748.1:n.2526A>G, NR_135749.1:n.2506A>G, NR_135751.1:n.2366A>G, NR_135752.1:n.2133A>G, XM_047432132.1:c.1071A>G, XM_047432133.1:c.1071A>G, NM_001375484.1:c.1071A>G

Select item 14655655508.

rs1465565550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43596283 (GRCh38)
15:43888481 (GRCh37)
Canonical SPDI:: NC_000015.10:43596282:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43596283G>A, NC_000015.9:g.43888481G>A, NM_020990.5:c.743G>A, NM_020990.4:c.743G>A, NM_020990.3:c.743G>A, XM_005254150.5:c.266G>A, XM_005254150.4:c.266G>A, XM_005254150.3:c.266G>A, XM_005254150.2:c.266G>A, XM_005254150.1:c.266G>A, XM_011521195.3:c.836G>A, XM_011521195.2:c.836G>A, XM_011521195.1:c.836G>A, NR_135750.2:n.1332G>A, NR_135750.1:n.1332G>A, XM_011521194.2:c.836G>A, XM_011521194.1:c.836G>A, XM_011521196.2:c.836G>A, XM_011521196.1:c.836G>A, NR_135748.1:n.1381G>A, NR_135749.1:n.1361G>A, NR_135751.1:n.1221G>A, NR_135752.1:n.988G>A, XM_047432132.1:c.743G>A, XM_047432133.1:c.743G>A, NM_001375484.1:c.743G>A, NP_066270.1:p.Arg248His, XP_005254207.1:p.Arg89His, XP_011519497.1:p.Arg279His, XP_011519496.1:p.Arg279His, XP_011519498.1:p.Arg279His, XP_047288088.1:p.Arg248His, XP_047288089.1:p.Arg248His, NP_001362413.1:p.Arg248His

Select item 14621845149.

rs1462184514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43598844 (GRCh38)
15:43891042 (GRCh37)
Canonical SPDI:: NC_000015.10:43598843:G:A
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43598844G>A, NC_000015.9:g.43891042G>A, NG_011636.1:g.24957C>T, NM_020990.5:c.1029G>A, NM_020990.4:c.1029G>A, NM_020990.3:c.1029G>A, XM_005254150.5:c.552G>A, XM_005254150.4:c.552G>A, XM_005254150.3:c.552G>A, XM_005254150.2:c.552G>A, XM_005254150.1:c.552G>A, XM_011521195.3:c.1122G>A, XM_011521195.2:c.1122G>A, XM_011521195.1:c.1122G>A, NR_135750.2:n.2435G>A, NR_135750.1:n.2435G>A, XM_011521194.2:c.1122G>A, XM_011521194.1:c.1122G>A, XM_011521196.2:c.1122G>A, XM_011521196.1:c.1122G>A, NR_135748.1:n.2484G>A, NR_135749.1:n.2464G>A, NR_135751.1:n.2324G>A, NR_135752.1:n.2091G>A, XM_047432132.1:c.1029G>A, XM_047432133.1:c.1029G>A, NM_001375484.1:c.1029G>A

Select item 145296729410.

rs1452967294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43598260 (GRCh38)
15:43890458 (GRCh37)
Canonical SPDI:: NC_000015.10:43598259:C:T
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43598260C>T, NC_000015.9:g.43890458C>T, NG_011636.1:g.25541G>A, NM_020990.5:c.944C>T, NM_020990.4:c.944C>T, NM_020990.3:c.944C>T, XM_005254150.5:c.467C>T, XM_005254150.4:c.467C>T, XM_005254150.3:c.467C>T, XM_005254150.2:c.467C>T, XM_005254150.1:c.467C>T, XM_011521195.3:c.1037C>T, XM_011521195.2:c.1037C>T, XM_011521195.1:c.1037C>T, NR_135750.2:n.2350C>T, NR_135750.1:n.2350C>T, XM_011521194.2:c.1037C>T, XM_011521194.1:c.1037C>T, XM_011521196.2:c.1037C>T, XM_011521196.1:c.1037C>T, NR_135748.1:n.2399C>T, NR_135749.1:n.2379C>T, NR_135751.1:n.2239C>T, NR_135752.1:n.2006C>T, XM_047432132.1:c.944C>T, XM_047432133.1:c.944C>T, NM_001375484.1:c.944C>T, NP_066270.1:p.Thr315Ile, XP_005254207.1:p.Thr156Ile, XP_011519497.1:p.Thr346Ile, XP_011519496.1:p.Thr346Ile, XP_011519498.1:p.Thr346Ile, XP_047288088.1:p.Thr315Ile, XP_047288089.1:p.Thr315Ile, NP_001362413.1:p.Thr315Ile

Select item 145165303911.

rs1451653039 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:43596058 (GRCh38)
15:43888257 (GRCh37)
Canonical SPDI:: NC_000015.10:43596058::C
Gene:: CKMT1B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43596058_43596059insC, NC_000015.9:g.43888256_43888257insC, NM_020990.5:c.647_648insC, NM_020990.4:c.647_648insC, NM_020990.3:c.647_648insC, XM_005254150.5:c.170_171insC, XM_005254150.4:c.170_171insC, XM_005254150.3:c.170_171insC, XM_005254150.2:c.170_171insC, XM_005254150.1:c.170_171insC, XM_011521195.3:c.740_741insC, XM_011521195.2:c.740_741insC, XM_011521195.1:c.740_741insC, NR_135750.2:n.1236_1237insC, NR_135750.1:n.1236_1237insC, XM_011521194.2:c.740_741insC, XM_011521194.1:c.740_741insC, XM_011521196.2:c.740_741insC, XM_011521196.1:c.740_741insC, NR_135748.1:n.1285_1286insC, NR_135749.1:n.1265_1266insC, NR_135751.1:n.1125_1126insC, NR_135752.1:n.892_893insC, XM_047432132.1:c.647_648insC, XM_047432133.1:c.647_648insC, NM_001375484.1:c.647_648insC, XM_047432134.1:c.*45_*46insC, NP_066270.1:p.Glu216fs, XP_005254207.1:p.Glu57fs, XP_011519497.1:p.Glu247fs, XP_011519496.1:p.Glu247fs, XP_011519498.1:p.Glu247fs, XP_047288088.1:p.Glu216fs, XP_047288089.1:p.Glu216fs, NP_001362413.1:p.Glu216fs

Select item 143752916112.

rs1437529161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43598234 (GRCh38)
15:43890432 (GRCh37)
Canonical SPDI:: NC_000015.10:43598233:G:C
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.43598234G>C, NC_000015.9:g.43890432G>C, NG_011636.1:g.25567C>G, NM_020990.5:c.918G>C, NM_020990.4:c.918G>C, NM_020990.3:c.918G>C, XM_005254150.5:c.441G>C, XM_005254150.4:c.441G>C, XM_005254150.3:c.441G>C, XM_005254150.2:c.441G>C, XM_005254150.1:c.441G>C, XM_011521195.3:c.1011G>C, XM_011521195.2:c.1011G>C, XM_011521195.1:c.1011G>C, NR_135750.2:n.2324G>C, NR_135750.1:n.2324G>C, XM_011521194.2:c.1011G>C, XM_011521194.1:c.1011G>C, XM_011521196.2:c.1011G>C, XM_011521196.1:c.1011G>C, NR_135748.1:n.2373G>C, NR_135749.1:n.2353G>C, NR_135751.1:n.2213G>C, NR_135752.1:n.1980G>C, XM_047432132.1:c.918G>C, XM_047432133.1:c.918G>C, NM_001375484.1:c.918G>C, NP_066270.1:p.Trp306Cys, XP_005254207.1:p.Trp147Cys, XP_011519497.1:p.Trp337Cys, XP_011519496.1:p.Trp337Cys, XP_011519498.1:p.Trp337Cys, XP_047288088.1:p.Trp306Cys, XP_047288089.1:p.Trp306Cys, NP_001362413.1:p.Trp306Cys

Select item 143656753513.

rs1436567535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:43598201 (GRCh38)
15:43890399 (GRCh37)
Canonical SPDI:: NC_000015.10:43598200:A:G,NC_000015.10:43598200:A:T
Gene:: CKMT1B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.43598201A>G, NC_000015.10:g.43598201A>T, NC_000015.9:g.43890399A>G, NC_000015.9:g.43890399A>T, NG_011636.1:g.25600T>C, NG_011636.1:g.25600T>A, NM_020990.5:c.885A>G, NM_020990.5:c.885A>T, NM_020990.4:c.885A>G, NM_020990.4:c.885A>T, NM_020990.3:c.885A>G, NM_020990.3:c.885A>T, XM_005254150.5:c.408A>G, XM_005254150.5:c.408A>T, XM_005254150.4:c.408A>G, XM_005254150.4:c.408A>T, XM_005254150.3:c.408A>G, XM_005254150.3:c.408A>T, XM_005254150.2:c.408A>G, XM_005254150.2:c.408A>T, XM_005254150.1:c.408A>G, XM_005254150.1:c.408A>T, XM_011521195.3:c.978A>G, XM_011521195.3:c.978A>T, XM_011521195.2:c.978A>G, XM_011521195.2:c.978A>T, XM_011521195.1:c.978A>G, XM_011521195.1:c.978A>T, NR_135750.2:n.2291A>G, NR_135750.2:n.2291A>T, NR_135750.1:n.2291A>G, NR_135750.1:n.2291A>T, XM_011521194.2:c.978A>G, XM_011521194.2:c.978A>T, XM_011521194.1:c.978A>G, XM_011521194.1:c.978A>T, XM_011521196.2:c.978A>G, XM_011521196.2:c.978A>T, XM_011521196.1:c.978A>G, XM_011521196.1:c.978A>T, NR_135748.1:n.2340A>G, NR_135748.1:n.2340A>T, NR_135749.1:n.2320A>G, NR_135749.1:n.2320A>T, NR_135751.1:n.2180A>G, NR_135751.1:n.2180A>T, NR_135752.1:n.1947A>G, NR_135752.1:n.1947A>T, XM_047432132.1:c.885A>G, XM_047432132.1:c.885A>T, XM_047432133.1:c.885A>G, XM_047432133.1:c.885A>T, NM_001375484.1:c.885A>G, NM_001375484.1:c.885A>T, NP_066270.1:p.Arg295Ser, XP_005254207.1:p.Arg136Ser, XP_011519497.1:p.Arg326Ser, XP_011519496.1:p.Arg326Ser, XP_011519498.1:p.Arg326Ser, XP_047288088.1:p.Arg295Ser, XP_047288089.1:p.Arg295Ser, NP_001362413.1:p.Arg295Ser

Select item 143186111814.

rs1431861118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:43595869 (GRCh38)
15:43888067 (GRCh37)
Canonical SPDI:: NC_000015.10:43595868:A:C
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43595869A>C, NC_000015.9:g.43888067A>C, NM_020990.5:c.458A>C, NM_020990.4:c.458A>C, NM_020990.3:c.458A>C, XM_011521195.3:c.551A>C, XM_011521195.2:c.551A>C, XM_011521195.1:c.551A>C, NR_135750.2:n.1047A>C, NR_135750.1:n.1047A>C, XM_011521194.2:c.551A>C, XM_011521194.1:c.551A>C, XM_011521196.2:c.551A>C, XM_011521196.1:c.551A>C, NR_135748.1:n.1096A>C, NR_135751.1:n.936A>C, XM_047432132.1:c.458A>C, XM_047432133.1:c.458A>C, NM_001375484.1:c.458A>C, NP_066270.1:p.Tyr153Ser, XP_011519497.1:p.Tyr184Ser, XP_011519496.1:p.Tyr184Ser, XP_011519498.1:p.Tyr184Ser, XP_047288088.1:p.Tyr153Ser, XP_047288089.1:p.Tyr153Ser, NP_001362413.1:p.Tyr153Ser

Select item 143014608715.

rs1430146087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:43598942 (GRCh38)
15:43891140 (GRCh37)
Canonical SPDI:: NC_000015.10:43598941:G:T
Gene:: CKMT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43598942G>T, NC_000015.9:g.43891140G>T, NG_011636.1:g.24859C>A, NM_020990.5:c.1127G>T, NM_020990.4:c.1127G>T, NM_020990.3:c.1127G>T, XM_005254150.5:c.650G>T, XM_005254150.4:c.650G>T, XM_005254150.3:c.650G>T, XM_005254150.2:c.650G>T, XM_005254150.1:c.650G>T, XM_011521195.3:c.1220G>T, XM_011521195.2:c.1220G>T, XM_011521195.1:c.1220G>T, NR_135750.2:n.2533G>T, NR_135750.1:n.2533G>T, XM_011521194.2:c.1220G>T, XM_011521194.1:c.1220G>T, XM_011521196.2:c.1220G>T, XM_011521196.1:c.1220G>T, NR_135748.1:n.2582G>T, NR_135749.1:n.2562G>T, NR_135751.1:n.2422G>T, NR_135752.1:n.2189G>T, XM_047432132.1:c.1127G>T, XM_047432133.1:c.1127G>T, NM_001375484.1:c.1127G>T, NP_066270.1:p.Gly376Val, XP_005254207.1:p.Gly217Val, XP_011519497.1:p.Gly407Val, XP_011519496.1:p.Gly407Val, XP_011519498.1:p.Gly407Val, XP_047288088.1:p.Gly376Val, XP_047288089.1:p.Gly376Val, NP_001362413.1:p.Gly376Val

Select item 142702711816.

rs1427027118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43596220 (GRCh38)
15:43888418 (GRCh37)
Canonical SPDI:: NC_000015.10:43596219:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.43596220T>C, NC_000015.9:g.43888418T>C, NM_020990.5:c.680T>C, NM_020990.4:c.680T>C, NM_020990.3:c.680T>C, XM_005254150.5:c.203T>C, XM_005254150.4:c.203T>C, XM_005254150.3:c.203T>C, XM_005254150.2:c.203T>C, XM_005254150.1:c.203T>C, XM_011521195.3:c.773T>C, XM_011521195.2:c.773T>C, XM_011521195.1:c.773T>C, NR_135750.2:n.1269T>C, NR_135750.1:n.1269T>C, XM_011521194.2:c.773T>C, XM_011521194.1:c.773T>C, XM_011521196.2:c.773T>C, XM_011521196.1:c.773T>C, NR_135748.1:n.1318T>C, NR_135749.1:n.1298T>C, NR_135751.1:n.1158T>C, NR_135752.1:n.925T>C, XM_047432132.1:c.680T>C, XM_047432133.1:c.680T>C, NM_001375484.1:c.680T>C, NP_066270.1:p.Phe227Ser, XP_005254207.1:p.Phe68Ser, XP_011519497.1:p.Phe258Ser, XP_011519496.1:p.Phe258Ser, XP_011519498.1:p.Phe258Ser, XP_047288088.1:p.Phe227Ser, XP_047288089.1:p.Phe227Ser, NP_001362413.1:p.Phe227Ser

Select item 142694823717.

rs1426948237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43596266 (GRCh38)
15:43888464 (GRCh37)
Canonical SPDI:: NC_000015.10:43596265:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.43596266A>G, NC_000015.9:g.43888464A>G, NM_020990.5:c.726A>G, NM_020990.4:c.726A>G, NM_020990.3:c.726A>G, XM_005254150.5:c.249A>G, XM_005254150.4:c.249A>G, XM_005254150.3:c.249A>G, XM_005254150.2:c.249A>G, XM_005254150.1:c.249A>G, XM_011521195.3:c.819A>G, XM_011521195.2:c.819A>G, XM_011521195.1:c.819A>G, NR_135750.2:n.1315A>G, NR_135750.1:n.1315A>G, XM_011521194.2:c.819A>G, XM_011521194.1:c.819A>G, XM_011521196.2:c.819A>G, XM_011521196.1:c.819A>G, NR_135748.1:n.1364A>G, NR_135749.1:n.1344A>G, NR_135751.1:n.1204A>G, NR_135752.1:n.971A>G, XM_047432132.1:c.726A>G, XM_047432133.1:c.726A>G, NM_001375484.1:c.726A>G

Select item 140711413418.

rs1407114134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43596503 (GRCh38)
15:43888701 (GRCh37)
Canonical SPDI:: NC_000015.10:43596502:T:C
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43596503T>C, NC_000015.9:g.43888701T>C, NM_020990.5:c.848T>C, NM_020990.4:c.848T>C, NM_020990.3:c.848T>C, XM_005254150.5:c.371T>C, XM_005254150.4:c.371T>C, XM_005254150.3:c.371T>C, XM_005254150.2:c.371T>C, XM_005254150.1:c.371T>C, XM_011521195.3:c.941T>C, XM_011521195.2:c.941T>C, XM_011521195.1:c.941T>C, NR_135750.2:n.1437T>C, NR_135750.1:n.1437T>C, XM_011521194.2:c.941T>C, XM_011521194.1:c.941T>C, XM_011521196.2:c.941T>C, XM_011521196.1:c.941T>C, NR_135748.1:n.1486T>C, NR_135749.1:n.1466T>C, NR_135751.1:n.1326T>C, NR_135752.1:n.1093T>C, XM_047432132.1:c.848T>C, XM_047432133.1:c.848T>C, NM_001375484.1:c.848T>C, NP_066270.1:p.Phe283Ser, XP_005254207.1:p.Phe124Ser, XP_011519497.1:p.Phe314Ser, XP_011519496.1:p.Phe314Ser, XP_011519498.1:p.Phe314Ser, XP_047288088.1:p.Phe283Ser, XP_047288089.1:p.Phe283Ser, NP_001362413.1:p.Phe283Ser

Select item 140400837019.

rs1404008370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43596455 (GRCh38)
15:43888653 (GRCh37)
Canonical SPDI:: NC_000015.10:43596454:A:G
Gene:: CKMT1B (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43596455A>G, NC_000015.9:g.43888653A>G, NM_020990.5:c.800A>G, NM_020990.4:c.800A>G, NM_020990.3:c.800A>G, XM_005254150.5:c.323A>G, XM_005254150.4:c.323A>G, XM_005254150.3:c.323A>G, XM_005254150.2:c.323A>G, XM_005254150.1:c.323A>G, XM_011521195.3:c.893A>G, XM_011521195.2:c.893A>G, XM_011521195.1:c.893A>G, NR_135750.2:n.1389A>G, NR_135750.1:n.1389A>G, XM_011521194.2:c.893A>G, XM_011521194.1:c.893A>G, XM_011521196.2:c.893A>G, XM_011521196.1:c.893A>G, NR_135748.1:n.1438A>G, NR_135749.1:n.1418A>G, NR_135751.1:n.1278A>G, NR_135752.1:n.1045A>G, XM_047432132.1:c.800A>G, XM_047432133.1:c.800A>G, NM_001375484.1:c.800A>G, NP_066270.1:p.His267Arg, XP_005254207.1:p.His108Arg, XP_011519497.1:p.His298Arg, XP_011519496.1:p.His298Arg, XP_011519498.1:p.His298Arg, XP_047288088.1:p.His267Arg, XP_047288089.1:p.His267Arg, NP_001362413.1:p.His267Arg

Select item 139526173720.

rs1395261737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43599200 (GRCh38)
15:43891398 (GRCh37)
Canonical SPDI:: NC_000015.10:43599199:T:C
Gene:: CKMT1B (Varview), STRC (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.43599200T>C, NC_000015.9:g.43891398T>C, NG_011636.1:g.24601A>G, NM_020990.5:c.1181T>C, NM_020990.4:c.1181T>C, NM_020990.3:c.1181T>C, XM_005254150.5:c.704T>C, XM_005254150.4:c.704T>C, XM_005254150.3:c.704T>C, XM_005254150.2:c.704T>C, XM_005254150.1:c.704T>C, XM_011521195.3:c.1274T>C, XM_011521195.2:c.1274T>C, XM_011521195.1:c.1274T>C, NR_135750.2:n.2587T>C, NR_135750.1:n.2587T>C, XM_011521194.2:c.1274T>C, XM_011521194.1:c.1274T>C, XM_011521196.2:c.1274T>C, XM_011521196.1:c.1274T>C, NR_135748.1:n.2636T>C, NR_135749.1:n.2616T>C, NR_135751.1:n.2476T>C, NR_135752.1:n.2243T>C, XM_047432132.1:c.1181T>C, XM_047432133.1:c.1181T>C, NM_001375484.1:c.1181T>C, NP_066270.1:p.Ile394Thr, XP_005254207.1:p.Ile235Thr, XP_011519497.1:p.Ile425Thr, XP_011519496.1:p.Ile425Thr, XP_011519498.1:p.Ile425Thr, XP_047288088.1:p.Ile394Thr, XP_047288089.1:p.Ile394Thr, NP_001362413.1:p.Ile394Thr

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