Canonical Allele Identifier: CA1183560

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258918
• ClinVar RCV Id: RCV000249178 ; RCV000268090 ; RCV000323182 ; RCV000381211 ; RCV000756691
• dbSNP Id: rs148912436
• ExAC: 1:158637728 T / C
• gnomAD v2: 1-158637728-T-C
• gnomAD v3: 1-158667938-T-C
• gnomAD v4: 1-158667938-T-C
• COSMIC: COSM3732991
• MyVariant Identifiers: chr1:g.158637728T>C (hg19) ; chr1:g.158667938T>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158667938T>C , CM000663.2:g.158667938T>C	GRCh38
NC_000001.10:g.158637728T>C , CM000663.1:g.158637728T>C	GRCh37
NC_000001.9:g.156904352T>C	NCBI36
NG_011474.1:g.23779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.1958A>G MANE Select	ENSP00000495214.1:p.Tyr653Cys
ENST00000368147.8:c.1958A>G	ENSP00000357129.4:p.Tyr653Cys
ENST00000614909.4:c.1958A>G	ENSP00000482595.1:p.Tyr653Cys
NM_003126.2:c.1958A>G	NP_003117.2:p.Tyr653Cys
XM_011509916.1:c.1958A>G	XP_011508218.1:p.Tyr653Cys
XM_011509917.1:c.1958A>G	XP_011508219.1:p.Tyr653Cys
XM_011509918.1:c.1958A>G	XP_011508220.1:p.Tyr653Cys
XM_011509919.1:c.1958A>G	XP_011508221.1:p.Tyr653Cys
XR_921911.1:n.2071A>G
XR_921912.1:n.2076A>G
NM_003126.3:c.1958A>G	NP_003117.2:p.Tyr653Cys
XM_011509916.2:c.1958A>G	XP_011508218.1:p.Tyr653Cys
XM_011509917.3:c.1958A>G	XP_011508219.1:p.Tyr653Cys
XM_011509918.3:c.1958A>G	XP_011508220.1:p.Tyr653Cys
XM_011509919.3:c.1958A>G	XP_011508221.1:p.Tyr653Cys
XR_921911.3:n.2084A>G
XR_921912.2:n.2086A>G
NM_003126.4:c.1958A>G MANE Select	NP_003117.2:p.Tyr653Cys