Canonical Allele Identifier: CA526552961

Gene: SPTA1

Linked Data

• dbSNP Id: rs1462476211
• gnomAD v2: 1-158650341-T-C
• gnomAD v4: 1-158680551-T-C
• MyVariant Identifiers: chr1:g.158650341T>C (hg19) ; chr1:g.158680551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158680551T>C , CM000663.2:g.158680551T>C	GRCh38
NC_000001.10:g.158650341T>C , CM000663.1:g.158650341T>C	GRCh37
NC_000001.9:g.156916965T>C	NCBI36
NG_011474.1:g.11166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.678+32A>G MANE Select	ENSP00000495214.1:n.678+32A>G
ENST00000368147.8:c.678+32A>G	ENSP00000357129.4:n.678+32A>G
ENST00000467387.1:c.133-2017A>G	ENSP00000476485.1:n.133-2017A>G
ENST00000614909.4:c.678+32A>G	ENSP00000482595.1:n.678+32A>G
NM_003126.2:c.678+32A>G	NP_003117.2:n.678+32A>G
XM_011509916.1:c.678+32A>G	XP_011508218.1:n.678+32A>G
XM_011509917.1:c.678+32A>G	XP_011508219.1:n.678+32A>G
XM_011509918.1:c.678+32A>G	XP_011508220.1:n.678+32A>G
XM_011509919.1:c.678+32A>G	XP_011508221.1:n.678+32A>G
XR_921911.1:n.791+32A>G
XR_921912.1:n.796+32A>G
NM_003126.3:c.678+32A>G	NP_003117.2:n.678+32A>G
XM_011509916.2:c.678+32A>G	XP_011508218.1:n.678+32A>G
XM_011509917.3:c.678+32A>G	XP_011508219.1:n.678+32A>G
XM_011509918.3:c.678+32A>G	XP_011508220.1:n.678+32A>G
XM_011509919.3:c.678+32A>G	XP_011508221.1:n.678+32A>G
XR_921911.3:n.804+32A>G
XR_921912.2:n.806+32A>G
NM_003126.4:c.678+32A>G MANE Select	NP_003117.2:n.678+32A>G