Canonical Allele Identifier: CA1184056
Gene: SPTA1 HGNC NCBI
COSMIC:
COSM5930746 (not active)
MyVariant.info:
GRCh38 chr1:g.158678534C>T
GRCh37 chr1:g.158648324C>T
Revel Score:
ENST00000368148 0.215
ENST00000368147 0.215
gnomAD v2:
1:158648324 C / T
gnomAD v3:
1:158678534 C / T
gnomAD v4:
chr1-158678534-C-T
Joint Max Group AF 0.00269173 (NFE)
Genomes Max Group AF 0.00237125 (NFE)
Exomes Max Group AF 0.00269455 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158678534C>T , CM000663.2:g.158678534C>T GRCh38
NC_000001.10:g.158648324C>T , CM000663.1:g.158648324C>T GRCh37
NC_000001.9:g.156914948C>T NCBI36
NG_011474.1:g.13183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.679G>A MANE Select ENSP00000495214.1:p.Glu227Lys
ENST00000368147.8:c.679G>A ENSP00000357129.4:p.Glu227Lys
ENST00000467387.1:c.133G>A ENSP00000476485.1:p.Glu45Lys
ENST00000614909.4:c.679G>A ENSP00000482595.1:p.Glu227Lys
NM_003126.2:c.679G>A NP_003117.2:p.Glu227Lys
XM_011509916.1:c.679G>A XP_011508218.1:p.Glu227Lys
XM_011509917.1:c.679G>A XP_011508219.1:p.Glu227Lys
XM_011509918.1:c.679G>A XP_011508220.1:p.Glu227Lys
XM_011509919.1:c.679G>A XP_011508221.1:p.Glu227Lys
XR_921911.1:n.792G>A
XR_921912.1:n.797G>A
NM_003126.3:c.679G>A NP_003117.2:p.Glu227Lys
XM_011509916.2:c.679G>A XP_011508218.1:p.Glu227Lys
XM_011509917.3:c.679G>A XP_011508219.1:p.Glu227Lys
XM_011509918.3:c.679G>A XP_011508220.1:p.Glu227Lys
XM_011509919.3:c.679G>A XP_011508221.1:p.Glu227Lys
XR_921911.3:n.805G>A
XR_921912.2:n.807G>A
NM_003126.4:c.679G>A MANE Select NP_003117.2:p.Glu227Lys
Search 100 bp 5'
Search 100 bp 3'