SNP Links for Protein (Select 585420412) - SNP

Links from Protein

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Select item 14808328131.

rs1480832813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:201288698 (GRCh38)
2:202153421 (GRCh37)
Canonical SPDI:: NC_000002.12:201288697:G:A
Gene:: FLACC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201288698G>A, NC_000002.11:g.202153421G>A, NG_007497.1:g.60241G>A, NM_139163.4:c.1295C>T, NM_139163.3:c.1295C>T, NM_139163.2:c.1295C>T, XM_011510606.4:c.1241C>T, XM_011510606.3:c.1241C>T, XM_011510606.2:c.1241C>T, XM_011510606.1:c.1241C>T, XM_011510610.4:c.986C>T, XM_011510610.3:c.986C>T, XM_011510610.2:c.986C>T, XM_011510610.1:c.986C>T, XM_011510612.4:c.668C>T, XM_011510612.3:c.668C>T, XM_011510612.2:c.668C>T, XM_011510612.1:c.668C>T, NM_001127391.3:c.1226C>T, NM_001127391.2:c.1226C>T, NM_001127391.1:c.1226C>T, NR_110620.2:n.1803C>T, NR_110620.1:n.1856C>T, XM_024452696.2:c.1295C>T, XM_024452696.1:c.1295C>T, NM_001289993.2:c.1226C>T, NM_001289993.1:c.1226C>T, XM_047443394.1:c.*128C>T, XM_047443395.1:c.*99C>T, XM_047443393.1:c.1226C>T, NP_631902.2:p.Ser432Phe, XP_011508908.1:p.Ser414Phe, XP_011508912.1:p.Ser329Phe, XP_011508914.1:p.Ser223Phe, NP_001120863.1:p.Ser409Phe, XP_024308464.1:p.Ser432Phe, NP_001276922.1:p.Ser409Phe, XP_047299349.1:p.Ser409Phe

Select item 14798426732.

rs1479842673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201350757 (GRCh38)
2:202215480 (GRCh37)
Canonical SPDI:: NC_000002.12:201350756:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201350757T>C, NC_000002.11:g.202215480T>C, NM_139163.4:c.139A>G, NM_139163.3:c.139A>G, NM_139163.2:c.139A>G, XM_011510606.4:c.139A>G, XM_011510606.3:c.139A>G, XM_011510606.2:c.139A>G, XM_011510606.1:c.139A>G, NM_001127391.3:c.139A>G, NM_001127391.2:c.139A>G, NM_001127391.1:c.139A>G, NR_110620.2:n.550A>G, NR_110620.1:n.603A>G, XM_024452696.2:c.139A>G, XM_024452696.1:c.139A>G, NM_001289993.2:c.139A>G, NM_001289993.1:c.139A>G, XM_047443394.1:c.139A>G, XM_047443395.1:c.139A>G, XM_047443393.1:c.139A>G, XM_047443396.1:c.139A>G, NP_631902.2:p.Lys47Glu, XP_011508908.1:p.Lys47Glu, NP_001120863.1:p.Lys47Glu, XP_024308464.1:p.Lys47Glu, NP_001276922.1:p.Lys47Glu, XP_047299350.1:p.Lys47Glu, XP_047299351.1:p.Lys47Glu, XP_047299349.1:p.Lys47Glu, XP_047299352.1:p.Lys47Glu

Select item 14792483623.

rs1479248362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:201346652 (GRCh38)
2:202211375 (GRCh37)
Canonical SPDI:: NC_000002.12:201346651:G:A
Gene:: FLACC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201346652G>A, NC_000002.11:g.202211375G>A, NM_139163.4:c.258C>T, NM_139163.3:c.258C>T, NM_139163.2:c.258C>T, XM_011510606.4:c.258C>T, XM_011510606.3:c.258C>T, XM_011510606.2:c.258C>T, XM_011510606.1:c.258C>T, XM_011510610.4:c.-52C>T, XM_011510610.3:c.-52C>T, XM_011510610.2:c.-52C>T, XM_011510610.1:c.-52C>T, NM_001127391.3:c.258C>T, NM_001127391.2:c.258C>T, NM_001127391.1:c.258C>T, NR_110620.2:n.823C>T, NR_110620.1:n.876C>T, XM_024452696.2:c.258C>T, XM_024452696.1:c.258C>T, NM_001289993.2:c.258C>T, NM_001289993.1:c.258C>T, XM_047443394.1:c.258C>T, XM_047443395.1:c.258C>T, XM_047443393.1:c.258C>T, XM_047443396.1:c.258C>T

Select item 14781120384.

rs1478112038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201309243 (GRCh38)
2:202173966 (GRCh37)
Canonical SPDI:: NC_000002.12:201309242:A:G
Gene:: FLACC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201309243A>G, NC_000002.11:g.202173966A>G, NM_139163.4:c.683T>C, NM_139163.3:c.683T>C, NM_139163.2:c.683T>C, XM_011510606.4:c.683T>C, XM_011510606.3:c.683T>C, XM_011510606.2:c.683T>C, XM_011510606.1:c.683T>C, XM_011510610.4:c.374T>C, XM_011510610.3:c.374T>C, XM_011510610.2:c.374T>C, XM_011510610.1:c.374T>C, XM_011510612.4:c.56T>C, XM_011510612.3:c.56T>C, XM_011510612.2:c.56T>C, XM_011510612.1:c.56T>C, NM_001127391.3:c.683T>C, NM_001127391.2:c.683T>C, NM_001127391.1:c.683T>C, NR_110620.2:n.1186T>C, NR_110620.1:n.1239T>C, XM_024452696.2:c.683T>C, XM_024452696.1:c.683T>C, NM_001289993.2:c.683T>C, NM_001289993.1:c.683T>C, XM_047443394.1:c.683T>C, XM_047443395.1:c.683T>C, XM_047443393.1:c.683T>C, XM_047443396.1:c.683T>C, NP_631902.2:p.Ile228Thr, XP_011508908.1:p.Ile228Thr, XP_011508912.1:p.Ile125Thr, XP_011508914.1:p.Ile19Thr, NP_001120863.1:p.Ile228Thr, XP_024308464.1:p.Ile228Thr, NP_001276922.1:p.Ile228Thr, XP_047299350.1:p.Ile228Thr, XP_047299351.1:p.Ile228Thr, XP_047299349.1:p.Ile228Thr, XP_047299352.1:p.Ile228Thr

Select item 14750687785.

rs1475068778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:201307591 (GRCh38)
2:202172314 (GRCh37)
Canonical SPDI:: NC_000002.12:201307590:C:G,NC_000002.12:201307590:C:T
Gene:: FLACC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201307591C>G, NC_000002.12:g.201307591C>T, NC_000002.11:g.202172314C>G, NC_000002.11:g.202172314C>T, NM_139163.4:c.807G>C, NM_139163.4:c.807G>A, NM_139163.3:c.807G>C, NM_139163.3:c.807G>A, NM_139163.2:c.807G>C, NM_139163.2:c.807G>A, XM_011510606.4:c.807G>C, XM_011510606.4:c.807G>A, XM_011510606.3:c.807G>C, XM_011510606.3:c.807G>A, XM_011510606.2:c.807G>C, XM_011510606.2:c.807G>A, XM_011510606.1:c.807G>C, XM_011510606.1:c.807G>A, XM_011510610.4:c.498G>C, XM_011510610.4:c.498G>A, XM_011510610.3:c.498G>C, XM_011510610.3:c.498G>A, XM_011510610.2:c.498G>C, XM_011510610.2:c.498G>A, XM_011510610.1:c.498G>C, XM_011510610.1:c.498G>A, XM_011510612.4:c.180G>C, XM_011510612.4:c.180G>A, XM_011510612.3:c.180G>C, XM_011510612.3:c.180G>A, XM_011510612.2:c.180G>C, XM_011510612.2:c.180G>A, XM_011510612.1:c.180G>C, XM_011510612.1:c.180G>A, NM_001127391.3:c.807G>C, NM_001127391.3:c.807G>A, NM_001127391.2:c.807G>C, NM_001127391.2:c.807G>A, NM_001127391.1:c.807G>C, NM_001127391.1:c.807G>A, NR_110620.2:n.1310G>C, NR_110620.2:n.1310G>A, NR_110620.1:n.1363G>C, NR_110620.1:n.1363G>A, XM_024452696.2:c.807G>C, XM_024452696.2:c.807G>A, XM_024452696.1:c.807G>C, XM_024452696.1:c.807G>A, NM_001289993.2:c.807G>C, NM_001289993.2:c.807G>A, NM_001289993.1:c.807G>C, NM_001289993.1:c.807G>A, XM_047443394.1:c.807G>C, XM_047443394.1:c.807G>A, XM_047443395.1:c.807G>C, XM_047443395.1:c.807G>A, XM_047443393.1:c.807G>C, XM_047443393.1:c.807G>A, XM_047443396.1:c.807G>C, XM_047443396.1:c.807G>A, NP_631902.2:p.Glu269Asp, XP_011508908.1:p.Glu269Asp, XP_011508912.1:p.Glu166Asp, XP_011508914.1:p.Glu60Asp, NP_001120863.1:p.Glu269Asp, XP_024308464.1:p.Glu269Asp, NP_001276922.1:p.Glu269Asp, XP_047299350.1:p.Glu269Asp, XP_047299351.1:p.Glu269Asp, XP_047299349.1:p.Glu269Asp, XP_047299352.1:p.Glu269Asp

Select item 14702562756.

rs1470256275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:201350775 (GRCh38)
2:202215498 (GRCh37)
Canonical SPDI:: NC_000002.12:201350774:G:A
Gene:: FLACC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.201350775G>A, NC_000002.11:g.202215498G>A, NM_139163.4:c.121C>T, NM_139163.3:c.121C>T, NM_139163.2:c.121C>T, XM_011510606.4:c.121C>T, XM_011510606.3:c.121C>T, XM_011510606.2:c.121C>T, XM_011510606.1:c.121C>T, NM_001127391.3:c.121C>T, NM_001127391.2:c.121C>T, NM_001127391.1:c.121C>T, NR_110620.2:n.532C>T, NR_110620.1:n.585C>T, XM_024452696.2:c.121C>T, XM_024452696.1:c.121C>T, NM_001289993.2:c.121C>T, NM_001289993.1:c.121C>T, XM_047443394.1:c.121C>T, XM_047443395.1:c.121C>T, XM_047443393.1:c.121C>T, XM_047443396.1:c.121C>T, NP_631902.2:p.Pro41Ser, XP_011508908.1:p.Pro41Ser, NP_001120863.1:p.Pro41Ser, XP_024308464.1:p.Pro41Ser, NP_001276922.1:p.Pro41Ser, XP_047299350.1:p.Pro41Ser, XP_047299351.1:p.Pro41Ser, XP_047299349.1:p.Pro41Ser, XP_047299352.1:p.Pro41Ser

Select item 14685397857.

rs1468539785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:201289737 (GRCh38)
2:202154460 (GRCh37)
Canonical SPDI:: NC_000002.12:201289736:T:A
Gene:: FLACC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201289737T>A, NC_000002.11:g.202154460T>A, NM_139163.4:c.1060A>T, NM_139163.3:c.1060A>T, NM_139163.2:c.1060A>T, XM_011510606.4:c.1006A>T, XM_011510606.3:c.1006A>T, XM_011510606.2:c.1006A>T, XM_011510606.1:c.1006A>T, XM_011510610.4:c.751A>T, XM_011510610.3:c.751A>T, XM_011510610.2:c.751A>T, XM_011510610.1:c.751A>T, XM_011510612.4:c.433A>T, XM_011510612.3:c.433A>T, XM_011510612.2:c.433A>T, XM_011510612.1:c.433A>T, NM_001127391.3:c.991A>T, NM_001127391.2:c.991A>T, NM_001127391.1:c.991A>T, NR_110620.2:n.1568A>T, NR_110620.1:n.1621A>T, XM_024452696.2:c.1060A>T, XM_024452696.1:c.1060A>T, NM_001289993.2:c.991A>T, NM_001289993.1:c.991A>T, XM_047443394.1:c.1060A>T, XM_047443395.1:c.1060A>T, XM_047443393.1:c.991A>T, NP_631902.2:p.Asn354Tyr, XP_011508908.1:p.Asn336Tyr, XP_011508912.1:p.Asn251Tyr, XP_011508914.1:p.Asn145Tyr, NP_001120863.1:p.Asn331Tyr, XP_024308464.1:p.Asn354Tyr, NP_001276922.1:p.Asn331Tyr, XP_047299350.1:p.Asn354Tyr, XP_047299351.1:p.Asn354Tyr, XP_047299349.1:p.Asn331Tyr

Select item 14671303048.

rs1467130304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:201344181 (GRCh38)
2:202208904 (GRCh37)
Canonical SPDI:: NC_000002.12:201344180:C:A
Gene:: FLACC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.201344181C>A, NC_000002.11:g.202208904C>A, NM_139163.4:c.451G>T, NM_139163.3:c.451G>T, NM_139163.2:c.451G>T, XM_011510606.4:c.451G>T, XM_011510606.3:c.451G>T, XM_011510606.2:c.451G>T, XM_011510606.1:c.451G>T, XM_011510610.4:c.142G>T, XM_011510610.3:c.142G>T, XM_011510610.2:c.142G>T, XM_011510610.1:c.142G>T, XM_011510612.4:c.-115G>T, XM_011510612.3:c.-115G>T, XM_011510612.2:c.-115G>T, XM_011510612.1:c.-115G>T, NM_001127391.3:c.451G>T, NM_001127391.2:c.451G>T, NM_001127391.1:c.451G>T, NR_110620.2:n.1016G>T, NR_110620.1:n.1069G>T, XM_024452696.2:c.451G>T, XM_024452696.1:c.451G>T, NM_001289993.2:c.451G>T, NM_001289993.1:c.451G>T, XM_047443394.1:c.451G>T, XM_047443395.1:c.451G>T, XM_047443393.1:c.451G>T, XM_047443396.1:c.451G>T, NP_631902.2:p.Ala151Ser, XP_011508908.1:p.Ala151Ser, XP_011508912.1:p.Ala48Ser, NP_001120863.1:p.Ala151Ser, XP_024308464.1:p.Ala151Ser, NP_001276922.1:p.Ala151Ser, XP_047299350.1:p.Ala151Ser, XP_047299351.1:p.Ala151Ser, XP_047299349.1:p.Ala151Ser, XP_047299352.1:p.Ala151Ser

Select item 14668825729.

rs1466882572 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:201289700 (GRCh38)
2:202154424 (GRCh37)
Canonical SPDI:: NC_000002.12:201289700:TCT:TCTCT
Gene:: FLACC1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000007/1 (GnomAD)
TC=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.201289702_201289703dup, NC_000002.11:g.202154425_202154426dup, NG_007497.1:g.61245_61246dup, NM_139163.4:c.1095_1096dup, NM_139163.3:c.1095_1096dup, NM_139163.2:c.1095_1096dup, XM_011510606.4:c.1041_1042dup, XM_011510606.3:c.1041_1042dup, XM_011510606.2:c.1041_1042dup, XM_011510606.1:c.1041_1042dup, XM_011510610.4:c.786_787dup, XM_011510610.3:c.786_787dup, XM_011510610.2:c.786_787dup, XM_011510610.1:c.786_787dup, XM_011510612.4:c.468_469dup, XM_011510612.3:c.468_469dup, XM_011510612.2:c.468_469dup, XM_011510612.1:c.468_469dup, NM_001127391.3:c.1026_1027dup, NM_001127391.2:c.1026_1027dup, NM_001127391.1:c.1026_1027dup, NR_110620.2:n.1603_1604dup, NR_110620.1:n.1656_1657dup, XM_024452696.2:c.1095_1096dup, XM_024452696.1:c.1095_1096dup, NM_001289993.2:c.1026_1027dup, NM_001289993.1:c.1026_1027dup, XM_047443394.1:c.1095_1096dup, XM_047443395.1:c.1095_1096dup, XM_047443393.1:c.1026_1027dup, NP_631902.2:p.Lys366fs, XP_011508908.1:p.Lys348fs, XP_011508912.1:p.Lys263fs, XP_011508914.1:p.Lys157fs, NP_001120863.1:p.Lys343fs, XP_024308464.1:p.Lys366fs, NP_001276922.1:p.Lys343fs, XP_047299350.1:p.Lys366fs, XP_047299351.1:p.Lys366fs, XP_047299349.1:p.Lys343fs

Select item 146654002210.

rs1466540022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201307541 (GRCh38)
2:202172264 (GRCh37)
Canonical SPDI:: NC_000002.12:201307540:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201307541T>C, NC_000002.11:g.202172264T>C, NM_139163.4:c.857A>G, NM_139163.3:c.857A>G, NM_139163.2:c.857A>G, XM_011510606.4:c.857A>G, XM_011510606.3:c.857A>G, XM_011510606.2:c.857A>G, XM_011510606.1:c.857A>G, XM_011510610.4:c.548A>G, XM_011510610.3:c.548A>G, XM_011510610.2:c.548A>G, XM_011510610.1:c.548A>G, XM_011510612.4:c.230A>G, XM_011510612.3:c.230A>G, XM_011510612.2:c.230A>G, XM_011510612.1:c.230A>G, NM_001127391.3:c.857A>G, NM_001127391.2:c.857A>G, NM_001127391.1:c.857A>G, NR_110620.2:n.1360A>G, NR_110620.1:n.1413A>G, XM_024452696.2:c.857A>G, XM_024452696.1:c.857A>G, NM_001289993.2:c.857A>G, NM_001289993.1:c.857A>G, XM_047443394.1:c.857A>G, XM_047443395.1:c.857A>G, XM_047443393.1:c.857A>G, XM_047443396.1:c.857A>G, NP_631902.2:p.Glu286Gly, XP_011508908.1:p.Glu286Gly, XP_011508912.1:p.Glu183Gly, XP_011508914.1:p.Glu77Gly, NP_001120863.1:p.Glu286Gly, XP_024308464.1:p.Glu286Gly, NP_001276922.1:p.Glu286Gly, XP_047299350.1:p.Glu286Gly, XP_047299351.1:p.Glu286Gly, XP_047299349.1:p.Glu286Gly, XP_047299352.1:p.Glu286Gly

Select item 146547758811.

rs1465477588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201344200 (GRCh38)
2:202208923 (GRCh37)
Canonical SPDI:: NC_000002.12:201344199:C:T
Gene:: FLACC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.201344200C>T, NC_000002.11:g.202208923C>T, NM_139163.4:c.432G>A, NM_139163.3:c.432G>A, NM_139163.2:c.432G>A, XM_011510606.4:c.432G>A, XM_011510606.3:c.432G>A, XM_011510606.2:c.432G>A, XM_011510606.1:c.432G>A, XM_011510610.4:c.123G>A, XM_011510610.3:c.123G>A, XM_011510610.2:c.123G>A, XM_011510610.1:c.123G>A, XM_011510612.4:c.-134G>A, XM_011510612.3:c.-134G>A, XM_011510612.2:c.-134G>A, XM_011510612.1:c.-134G>A, NM_001127391.3:c.432G>A, NM_001127391.2:c.432G>A, NM_001127391.1:c.432G>A, NR_110620.2:n.997G>A, NR_110620.1:n.1050G>A, XM_024452696.2:c.432G>A, XM_024452696.1:c.432G>A, NM_001289993.2:c.432G>A, NM_001289993.1:c.432G>A, XM_047443394.1:c.432G>A, XM_047443395.1:c.432G>A, XM_047443393.1:c.432G>A, XM_047443396.1:c.432G>A, NP_631902.2:p.Met144Ile, XP_011508908.1:p.Met144Ile, XP_011508912.1:p.Met41Ile, NP_001120863.1:p.Met144Ile, XP_024308464.1:p.Met144Ile, NP_001276922.1:p.Met144Ile, XP_047299350.1:p.Met144Ile, XP_047299351.1:p.Met144Ile, XP_047299349.1:p.Met144Ile, XP_047299352.1:p.Met144Ile

Select item 146130401612.

rs1461304016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201307528 (GRCh38)
2:202172251 (GRCh37)
Canonical SPDI:: NC_000002.12:201307527:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.201307528T>C, NC_000002.11:g.202172251T>C, NM_139163.4:c.870A>G, NM_139163.3:c.870A>G, NM_139163.2:c.870A>G, XM_011510606.4:c.870A>G, XM_011510606.3:c.870A>G, XM_011510606.2:c.870A>G, XM_011510606.1:c.870A>G, XM_011510610.4:c.561A>G, XM_011510610.3:c.561A>G, XM_011510610.2:c.561A>G, XM_011510610.1:c.561A>G, XM_011510612.4:c.243A>G, XM_011510612.3:c.243A>G, XM_011510612.2:c.243A>G, XM_011510612.1:c.243A>G, NM_001127391.3:c.870A>G, NM_001127391.2:c.870A>G, NM_001127391.1:c.870A>G, NR_110620.2:n.1373A>G, NR_110620.1:n.1426A>G, XM_024452696.2:c.870A>G, XM_024452696.1:c.870A>G, NM_001289993.2:c.870A>G, NM_001289993.1:c.870A>G, XM_047443394.1:c.870A>G, XM_047443395.1:c.870A>G, XM_047443393.1:c.870A>G, XM_047443396.1:c.870A>G

Select item 146082693213.

rs1460826932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:201330736 (GRCh38)
2:202195459 (GRCh37)
Canonical SPDI:: NC_000002.12:201330735:C:G
Gene:: FLACC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201330736C>G, NC_000002.11:g.202195459C>G, NM_139163.4:c.622G>C, NM_139163.3:c.622G>C, NM_139163.2:c.622G>C, XM_011510606.4:c.622G>C, XM_011510606.3:c.622G>C, XM_011510606.2:c.622G>C, XM_011510606.1:c.622G>C, XM_011510610.4:c.313G>C, XM_011510610.3:c.313G>C, XM_011510610.2:c.313G>C, XM_011510610.1:c.313G>C, XM_011510612.4:c.-6G>C, XM_011510612.3:c.-6G>C, XM_011510612.2:c.-6G>C, XM_011510612.1:c.-6G>C, NM_001127391.3:c.622G>C, NM_001127391.2:c.622G>C, NM_001127391.1:c.622G>C, NR_110620.2:n.1125G>C, NR_110620.1:n.1178G>C, XM_024452696.2:c.622G>C, XM_024452696.1:c.622G>C, NM_001289993.2:c.622G>C, NM_001289993.1:c.622G>C, XM_047443394.1:c.622G>C, XM_047443395.1:c.622G>C, XM_047443393.1:c.622G>C, XM_047443396.1:c.622G>C, NP_631902.2:p.Glu208Gln, XP_011508908.1:p.Glu208Gln, XP_011508912.1:p.Glu105Gln, NP_001120863.1:p.Glu208Gln, XP_024308464.1:p.Glu208Gln, NP_001276922.1:p.Glu208Gln, XP_047299350.1:p.Glu208Gln, XP_047299351.1:p.Glu208Gln, XP_047299349.1:p.Glu208Gln, XP_047299352.1:p.Glu208Gln

Select item 145972986214.

rs1459729862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201289762 (GRCh38)
2:202154485 (GRCh37)
Canonical SPDI:: NC_000002.12:201289761:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201289762T>C, NC_000002.11:g.202154485T>C, NM_139163.4:c.1035A>G, NM_139163.3:c.1035A>G, NM_139163.2:c.1035A>G, XM_011510606.4:c.981A>G, XM_011510606.3:c.981A>G, XM_011510606.2:c.981A>G, XM_011510606.1:c.981A>G, XM_011510610.4:c.726A>G, XM_011510610.3:c.726A>G, XM_011510610.2:c.726A>G, XM_011510610.1:c.726A>G, XM_011510612.4:c.408A>G, XM_011510612.3:c.408A>G, XM_011510612.2:c.408A>G, XM_011510612.1:c.408A>G, NM_001127391.3:c.966A>G, NM_001127391.2:c.966A>G, NM_001127391.1:c.966A>G, NR_110620.2:n.1543A>G, NR_110620.1:n.1596A>G, XM_024452696.2:c.1035A>G, XM_024452696.1:c.1035A>G, NM_001289993.2:c.966A>G, NM_001289993.1:c.966A>G, XM_047443394.1:c.1035A>G, XM_047443395.1:c.1035A>G, XM_047443393.1:c.966A>G

Select item 145957121815.

rs1459571218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201309161 (GRCh38)
2:202173884 (GRCh37)
Canonical SPDI:: NC_000002.12:201309160:C:T
Gene:: FLACC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201309161C>T, NC_000002.11:g.202173884C>T, NM_139163.4:c.765G>A, NM_139163.3:c.765G>A, NM_139163.2:c.765G>A, XM_011510606.4:c.765G>A, XM_011510606.3:c.765G>A, XM_011510606.2:c.765G>A, XM_011510606.1:c.765G>A, XM_011510610.4:c.456G>A, XM_011510610.3:c.456G>A, XM_011510610.2:c.456G>A, XM_011510610.1:c.456G>A, XM_011510612.4:c.138G>A, XM_011510612.3:c.138G>A, XM_011510612.2:c.138G>A, XM_011510612.1:c.138G>A, NM_001127391.3:c.765G>A, NM_001127391.2:c.765G>A, NM_001127391.1:c.765G>A, NR_110620.2:n.1268G>A, NR_110620.1:n.1321G>A, XM_024452696.2:c.765G>A, XM_024452696.1:c.765G>A, NM_001289993.2:c.765G>A, NM_001289993.1:c.765G>A, XM_047443394.1:c.765G>A, XM_047443395.1:c.765G>A, XM_047443393.1:c.765G>A, XM_047443396.1:c.765G>A

Select item 145736117716.

rs1457361177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201346635 (GRCh38)
2:202211358 (GRCh37)
Canonical SPDI:: NC_000002.12:201346634:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201346635T>C, NC_000002.11:g.202211358T>C, NM_139163.4:c.275A>G, NM_139163.3:c.275A>G, NM_139163.2:c.275A>G, XM_011510606.4:c.275A>G, XM_011510606.3:c.275A>G, XM_011510606.2:c.275A>G, XM_011510606.1:c.275A>G, XM_011510610.4:c.-35A>G, XM_011510610.3:c.-35A>G, XM_011510610.2:c.-35A>G, XM_011510610.1:c.-35A>G, NM_001127391.3:c.275A>G, NM_001127391.2:c.275A>G, NM_001127391.1:c.275A>G, NR_110620.2:n.840A>G, NR_110620.1:n.893A>G, XM_024452696.2:c.275A>G, XM_024452696.1:c.275A>G, NM_001289993.2:c.275A>G, NM_001289993.1:c.275A>G, XM_047443394.1:c.275A>G, XM_047443395.1:c.275A>G, XM_047443393.1:c.275A>G, XM_047443396.1:c.275A>G, NP_631902.2:p.Asn92Ser, XP_011508908.1:p.Asn92Ser, NP_001120863.1:p.Asn92Ser, XP_024308464.1:p.Asn92Ser, NP_001276922.1:p.Asn92Ser, XP_047299350.1:p.Asn92Ser, XP_047299351.1:p.Asn92Ser, XP_047299349.1:p.Asn92Ser, XP_047299352.1:p.Asn92Ser

Select item 145549513117.

rs1455495131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:201288708 (GRCh38)
2:202153431 (GRCh37)
Canonical SPDI:: NC_000002.12:201288707:T:A,NC_000002.12:201288707:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201288708T>A, NC_000002.12:g.201288708T>C, NC_000002.11:g.202153431T>A, NC_000002.11:g.202153431T>C, NG_007497.1:g.60251T>A, NG_007497.1:g.60251T>C, NM_139163.4:c.1285A>T, NM_139163.4:c.1285A>G, NM_139163.3:c.1285A>T, NM_139163.3:c.1285A>G, NM_139163.2:c.1285A>T, NM_139163.2:c.1285A>G, XM_011510606.4:c.1231A>T, XM_011510606.4:c.1231A>G, XM_011510606.3:c.1231A>T, XM_011510606.3:c.1231A>G, XM_011510606.2:c.1231A>T, XM_011510606.2:c.1231A>G, XM_011510606.1:c.1231A>T, XM_011510606.1:c.1231A>G, XM_011510610.4:c.976A>T, XM_011510610.4:c.976A>G, XM_011510610.3:c.976A>T, XM_011510610.3:c.976A>G, XM_011510610.2:c.976A>T, XM_011510610.2:c.976A>G, XM_011510610.1:c.976A>T, XM_011510610.1:c.976A>G, XM_011510612.4:c.658A>T, XM_011510612.4:c.658A>G, XM_011510612.3:c.658A>T, XM_011510612.3:c.658A>G, XM_011510612.2:c.658A>T, XM_011510612.2:c.658A>G, XM_011510612.1:c.658A>T, XM_011510612.1:c.658A>G, NM_001127391.3:c.1216A>T, NM_001127391.3:c.1216A>G, NM_001127391.2:c.1216A>T, NM_001127391.2:c.1216A>G, NM_001127391.1:c.1216A>T, NM_001127391.1:c.1216A>G, NR_110620.2:n.1793A>T, NR_110620.2:n.1793A>G, NR_110620.1:n.1846A>T, NR_110620.1:n.1846A>G, XM_024452696.2:c.1285A>T, XM_024452696.2:c.1285A>G, XM_024452696.1:c.1285A>T, XM_024452696.1:c.1285A>G, NM_001289993.2:c.1216A>T, NM_001289993.2:c.1216A>G, NM_001289993.1:c.1216A>T, NM_001289993.1:c.1216A>G, XM_047443394.1:c.*118A>T, XM_047443394.1:c.*118A>G, XM_047443395.1:c.*89A>T, XM_047443395.1:c.*89A>G, XM_047443393.1:c.1216A>T, XM_047443393.1:c.1216A>G, NP_631902.2:p.Lys429Ter, NP_631902.2:p.Lys429Glu, XP_011508908.1:p.Lys411Ter, XP_011508908.1:p.Lys411Glu, XP_011508912.1:p.Lys326Ter, XP_011508912.1:p.Lys326Glu, XP_011508914.1:p.Lys220Ter, XP_011508914.1:p.Lys220Glu, NP_001120863.1:p.Lys406Ter, NP_001120863.1:p.Lys406Glu, XP_024308464.1:p.Lys429Ter, XP_024308464.1:p.Lys429Glu, NP_001276922.1:p.Lys406Ter, NP_001276922.1:p.Lys406Glu, XP_047299349.1:p.Lys406Ter, XP_047299349.1:p.Lys406Glu

Select item 145105123918.

rs1451051239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201307605 (GRCh38)
2:202172328 (GRCh37)
Canonical SPDI:: NC_000002.12:201307604:T:C
Gene:: FLACC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.201307605T>C, NC_000002.11:g.202172328T>C, NM_139163.4:c.793A>G, NM_139163.3:c.793A>G, NM_139163.2:c.793A>G, XM_011510606.4:c.793A>G, XM_011510606.3:c.793A>G, XM_011510606.2:c.793A>G, XM_011510606.1:c.793A>G, XM_011510610.4:c.484A>G, XM_011510610.3:c.484A>G, XM_011510610.2:c.484A>G, XM_011510610.1:c.484A>G, XM_011510612.4:c.166A>G, XM_011510612.3:c.166A>G, XM_011510612.2:c.166A>G, XM_011510612.1:c.166A>G, NM_001127391.3:c.793A>G, NM_001127391.2:c.793A>G, NM_001127391.1:c.793A>G, NR_110620.2:n.1296A>G, NR_110620.1:n.1349A>G, XM_024452696.2:c.793A>G, XM_024452696.1:c.793A>G, NM_001289993.2:c.793A>G, NM_001289993.1:c.793A>G, XM_047443394.1:c.793A>G, XM_047443395.1:c.793A>G, XM_047443393.1:c.793A>G, XM_047443396.1:c.793A>G, NP_631902.2:p.Lys265Glu, XP_011508908.1:p.Lys265Glu, XP_011508912.1:p.Lys162Glu, XP_011508914.1:p.Lys56Glu, NP_001120863.1:p.Lys265Glu, XP_024308464.1:p.Lys265Glu, NP_001276922.1:p.Lys265Glu, XP_047299350.1:p.Lys265Glu, XP_047299351.1:p.Lys265Glu, XP_047299349.1:p.Lys265Glu, XP_047299352.1:p.Lys265Glu

Select item 145100384919.

rs1451003849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201346555 (GRCh38)
2:202211278 (GRCh37)
Canonical SPDI:: NC_000002.12:201346554:C:T
Gene:: FLACC1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201346555C>T, NC_000002.11:g.202211278C>T, NM_139163.4:c.355G>A, NM_139163.3:c.355G>A, NM_139163.2:c.355G>A, XM_011510606.4:c.355G>A, XM_011510606.3:c.355G>A, XM_011510606.2:c.355G>A, XM_011510606.1:c.355G>A, XM_011510610.4:c.46G>A, XM_011510610.3:c.46G>A, XM_011510610.2:c.46G>A, XM_011510610.1:c.46G>A, NM_001127391.3:c.355G>A, NM_001127391.2:c.355G>A, NM_001127391.1:c.355G>A, NR_110620.2:n.920G>A, NR_110620.1:n.973G>A, XM_024452696.2:c.355G>A, XM_024452696.1:c.355G>A, NM_001289993.2:c.355G>A, NM_001289993.1:c.355G>A, XM_047443394.1:c.355G>A, XM_047443395.1:c.355G>A, XM_047443393.1:c.355G>A, XM_047443396.1:c.355G>A, NP_631902.2:p.Gly119Ser, XP_011508908.1:p.Gly119Ser, XP_011508912.1:p.Gly16Ser, NP_001120863.1:p.Gly119Ser, XP_024308464.1:p.Gly119Ser, NP_001276922.1:p.Gly119Ser, XP_047299350.1:p.Gly119Ser, XP_047299351.1:p.Gly119Ser, XP_047299349.1:p.Gly119Ser, XP_047299352.1:p.Gly119Ser

Select item 144185948320.

rs1441859483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 2:201288773 (GRCh38)
2:202153497 (GRCh37)
Canonical SPDI:: NC_000002.12:201288773:TCTTT:TCTTTCTTT
Gene:: FLACC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTTT=0./0 (ALFA)
TCTT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201288775_201288778dup, NC_000002.11:g.202153498_202153501dup, NG_007497.1:g.60318_60321dup, NM_139163.4:c.1216_1219dup, NM_139163.3:c.1216_1219dup, NM_139163.2:c.1216_1219dup, XM_011510606.4:c.1162_1165dup, XM_011510606.3:c.1162_1165dup, XM_011510606.2:c.1162_1165dup, XM_011510606.1:c.1162_1165dup, XM_011510610.4:c.907_910dup, XM_011510610.3:c.907_910dup, XM_011510610.2:c.907_910dup, XM_011510610.1:c.907_910dup, XM_011510612.4:c.589_592dup, XM_011510612.3:c.589_592dup, XM_011510612.2:c.589_592dup, XM_011510612.1:c.589_592dup, NM_001127391.3:c.1147_1150dup, NM_001127391.2:c.1147_1150dup, NM_001127391.1:c.1147_1150dup, NR_110620.2:n.1724_1727dup, NR_110620.1:n.1777_1780dup, XM_024452696.2:c.1216_1219dup, XM_024452696.1:c.1216_1219dup, NM_001289993.2:c.1147_1150dup, NM_001289993.1:c.1147_1150dup, XM_047443394.1:c.*49_*52dup, XM_047443395.1:c.*20_*23dup, XM_047443393.1:c.1147_1150dup, NP_631902.2:p.Ile407fs, XP_011508908.1:p.Ile389fs, XP_011508912.1:p.Ile304fs, XP_011508914.1:p.Ile198fs, NP_001120863.1:p.Ile384fs, XP_024308464.1:p.Ile407fs, NP_001276922.1:p.Ile384fs, XP_047299349.1:p.Ile384fs

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