Canonical Allele Identifier: CA1184041
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158678438C>T
GRCh37 chr1:g.158648228C>T
Revel Score:
ENST00000368148 0.071
ENST00000368147 0.071
gnomAD v2:
1:158648228 C / T
gnomAD v3:
1:158678438 C / T
gnomAD v4:
chr1-158678438-C-T
Joint Max Group AF 0.00158635 (NFE)
Genomes Max Group AF 0.00203246 (AMR)
Exomes Max Group AF 0.00159529 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158678438C>T , CM000663.2:g.158678438C>T GRCh38
NC_000001.10:g.158648228C>T , CM000663.1:g.158648228C>T GRCh37
NC_000001.9:g.156914852C>T NCBI36
NG_011474.1:g.13279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.775G>A MANE Select ENSP00000495214.1:p.Ala259Thr
ENST00000368147.8:c.775G>A ENSP00000357129.4:p.Ala259Thr
ENST00000467387.1:c.229G>A ENSP00000476485.1:p.Ala77Thr
ENST00000614909.4:c.775G>A ENSP00000482595.1:p.Ala259Thr
NM_003126.2:c.775G>A NP_003117.2:p.Ala259Thr
XM_011509916.1:c.775G>A XP_011508218.1:p.Ala259Thr
XM_011509917.1:c.775G>A XP_011508219.1:p.Ala259Thr
XM_011509918.1:c.775G>A XP_011508220.1:p.Ala259Thr
XM_011509919.1:c.775G>A XP_011508221.1:p.Ala259Thr
XR_921911.1:n.888G>A
XR_921912.1:n.893G>A
NM_003126.3:c.775G>A NP_003117.2:p.Ala259Thr
XM_011509916.2:c.775G>A XP_011508218.1:p.Ala259Thr
XM_011509917.3:c.775G>A XP_011508219.1:p.Ala259Thr
XM_011509918.3:c.775G>A XP_011508220.1:p.Ala259Thr
XM_011509919.3:c.775G>A XP_011508221.1:p.Ala259Thr
XR_921911.3:n.901G>A
XR_921912.2:n.903G>A
NM_003126.4:c.775G>A MANE Select NP_003117.2:p.Ala259Thr
Search 100 bp 5'
Search 100 bp 3'