Canonical Allele Identifier: CA1182921

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292989
• ClinVar RCV Id: RCV000259777 ; RCV000318383 ; RCV000373123 ; RCV001356359 ; RCV004021364
• dbSNP Id: rs200890386
• ExAC: 1:158617386 T / C
• gnomAD v2: 1-158617386-T-C
• gnomAD v3: 1-158647596-T-C
• gnomAD v4: 1-158647596-T-C
• MyVariant Identifiers: chr1:g.158617386T>C (hg19) ; chr1:g.158647596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158647596T>C , CM000663.2:g.158647596T>C	GRCh38
NC_000001.10:g.158617386T>C , CM000663.1:g.158617386T>C	GRCh37
NC_000001.9:g.156884010T>C	NCBI36
NG_011474.1:g.44121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3839A>G MANE Select	ENSP00000495214.1:p.Asp1280Gly
ENST00000368147.8:c.3839A>G	ENSP00000357129.4:p.Asp1280Gly
ENST00000614909.4:c.3839A>G	ENSP00000482595.1:p.Asp1280Gly
NM_003126.2:c.3839A>G	NP_003117.2:p.Asp1280Gly
XM_011509916.1:c.3839A>G	XP_011508218.1:p.Asp1280Gly
XM_011509917.1:c.3839A>G	XP_011508219.1:p.Asp1280Gly
XM_011509918.1:c.3839A>G	XP_011508220.1:p.Asp1280Gly
XM_011509919.1:c.3839A>G	XP_011508221.1:p.Asp1280Gly
XR_921911.1:n.3952A>G
XR_921912.1:n.3957A>G
NM_003126.3:c.3839A>G	NP_003117.2:p.Asp1280Gly
XM_011509916.2:c.3839A>G	XP_011508218.1:p.Asp1280Gly
XM_011509917.3:c.3839A>G	XP_011508219.1:p.Asp1280Gly
XM_011509918.3:c.3839A>G	XP_011508220.1:p.Asp1280Gly
XM_011509919.3:c.3839A>G	XP_011508221.1:p.Asp1280Gly
XR_921911.3:n.3965A>G
XR_921912.2:n.3967A>G
NM_003126.4:c.3839A>G MANE Select	NP_003117.2:p.Asp1280Gly