Canonical Allele Identifier: CA122749
Gene: SPTA1 HGNC NCBI
COSMIC:
COSM4988193 (not active)
MyVariant.info:
GRCh38 chr1:g.158654738G>T
GRCh37 chr1:g.158624528G>T
Revel Score:
ENST00000368148 0.074
ENST00000368147 0.074
gnomAD v2:
1:158624528 G / T
gnomAD v3:
1:158654738 G / T
gnomAD v4:
chr1-158654738-G-T
Joint Max Group AF 0.04801574 (NFE)
Genomes Max Group AF 0.04748479 (NFE)
Exomes Max Group AF 0.04797406 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158654738G>T , CM000663.2:g.158654738G>T GRCh38
NC_000001.10:g.158624528G>T , CM000663.1:g.158624528G>T GRCh37
NC_000001.9:g.156891152G>T NCBI36
NG_011474.1:g.36979C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.2909C>A MANE Select ENSP00000495214.1:p.Ala970Asp
ENST00000368147.8:c.2909C>A ENSP00000357129.4:p.Ala970Asp
ENST00000614909.4:c.2909C>A ENSP00000482595.1:p.Ala970Asp
NM_003126.2:c.2909C>A NP_003117.2:p.Ala970Asp
XM_011509916.1:c.2909C>A XP_011508218.1:p.Ala970Asp
XM_011509917.1:c.2909C>A XP_011508219.1:p.Ala970Asp
XM_011509918.1:c.2909C>A XP_011508220.1:p.Ala970Asp
XM_011509919.1:c.2909C>A XP_011508221.1:p.Ala970Asp
XR_921911.1:n.3022C>A
XR_921912.1:n.3027C>A
NM_003126.3:c.2909C>A NP_003117.2:p.Ala970Asp
XM_011509916.2:c.2909C>A XP_011508218.1:p.Ala970Asp
XM_011509917.3:c.2909C>A XP_011508219.1:p.Ala970Asp
XM_011509918.3:c.2909C>A XP_011508220.1:p.Ala970Asp
XM_011509919.3:c.2909C>A XP_011508221.1:p.Ala970Asp
XR_921911.3:n.3035C>A
XR_921912.2:n.3037C>A
NM_003126.4:c.2909C>A MANE Select NP_003117.2:p.Ala970Asp
Search 100 bp 5'
Search 100 bp 3'