Canonical Allele Identifier: CA1182137
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158623192C>T
GRCh37 chr1:g.158592982C>T
Revel Score:
ENST00000368148 0.160
ENST00000368147 0.160
gnomAD v2:
1:158592982 C / T
gnomAD v3:
1:158623192 C / T
gnomAD v4:
chr1-158623192-C-T
Joint Max Group AF 0.0112095 (AFR)
Genomes Max Group AF 0.01052249 (AFR)
Exomes Max Group AF 0.01147312 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158623192C>T , CM000663.2:g.158623192C>T GRCh38
NC_000001.10:g.158592982C>T , CM000663.1:g.158592982C>T GRCh37
NC_000001.9:g.156859606C>T NCBI36
NG_011474.1:g.68525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.5911G>A MANE Select ENSP00000495214.1:p.Asp1971Asn
ENST00000368147.8:c.5911G>A ENSP00000357129.4:p.Asp1971Asn
ENST00000461624.1:n.457G>A
ENST00000614909.4:c.5911G>A ENSP00000482595.1:p.Asp1971Asn
NM_003126.2:c.5911G>A NP_003117.2:p.Asp1971Asn
XM_011509916.1:c.5911G>A XP_011508218.1:p.Asp1971Asn
XM_011509917.1:c.5911G>A XP_011508219.1:p.Asp1971Asn
XM_011509918.1:c.5911G>A XP_011508220.1:p.Asp1971Asn
XR_921911.1:n.5756G>A
NM_003126.3:c.5911G>A NP_003117.2:p.Asp1971Asn
XM_011509916.2:c.5911G>A XP_011508218.1:p.Asp1971Asn
XM_011509917.3:c.5911G>A XP_011508219.1:p.Asp1971Asn
XM_011509918.3:c.5911G>A XP_011508220.1:p.Asp1971Asn
XR_921911.3:n.5769G>A
NM_003126.4:c.5911G>A MANE Select NP_003117.2:p.Asp1971Asn
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