Canonical Allele Identifier: CA1182494

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292979
• ClinVar RCV Id: RCV000268123 ; RCV000323216 ; RCV000353537
• dbSNP Id: rs369714529
• ExAC: 1:158609433 G / C
• gnomAD v2: 1-158609433-G-C
• gnomAD v3: 1-158639643-G-C
• gnomAD v4: 1-158639643-G-C
• MyVariant Identifiers: chr1:g.158609433G>C (hg19) ; chr1:g.158639643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158639643G>C , CM000663.2:g.158639643G>C	GRCh38
NC_000001.10:g.158609433G>C , CM000663.1:g.158609433G>C	GRCh37
NC_000001.9:g.156876057G>C	NCBI36
NG_011474.1:g.52074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4919C>G MANE Select	ENSP00000495214.1:p.Ala1640Gly
ENST00000368147.8:c.4919C>G	ENSP00000357129.4:p.Ala1640Gly
ENST00000465741.1:n.304C>G
ENST00000614909.4:c.4919C>G	ENSP00000482595.1:p.Ala1640Gly
NM_003126.2:c.4919C>G	NP_003117.2:p.Ala1640Gly
XM_011509916.1:c.4919C>G	XP_011508218.1:p.Ala1640Gly
XM_011509917.1:c.4919C>G	XP_011508219.1:p.Ala1640Gly
XM_011509918.1:c.4919C>G	XP_011508220.1:p.Ala1640Gly
XM_011509919.1:c.4919C>G	XP_011508221.1:p.Ala1640Gly
XR_921911.1:n.5032C>G
XR_921912.1:n.5107C>G
NM_003126.3:c.4919C>G	NP_003117.2:p.Ala1640Gly
XM_011509916.2:c.4919C>G	XP_011508218.1:p.Ala1640Gly
XM_011509917.3:c.4919C>G	XP_011508219.1:p.Ala1640Gly
XM_011509918.3:c.4919C>G	XP_011508220.1:p.Ala1640Gly
XM_011509919.3:c.4919C>G	XP_011508221.1:p.Ala1640Gly
XR_921911.3:n.5045C>G
XR_921912.2:n.5117C>G
NM_003126.4:c.4919C>G MANE Select	NP_003117.2:p.Ala1640Gly