Canonical Allele Identifier: CA889965577

Gene: SPTA1

Linked Data

• dbSNP Id: rs1455420341
• gnomAD v3: 1-158612718-A-G
• gnomAD v4: 1-158612718-A-G
• MyVariant Identifiers: chr1:g.158582508A>G (hg19) ; chr1:g.158612718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612718A>G , CM000663.2:g.158612718A>G	GRCh38
NC_000001.10:g.158582508A>G , CM000663.1:g.158582508A>G	GRCh37
NC_000001.9:g.156849132A>G	NCBI36
NG_011474.1:g.78999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+99T>C MANE Select	ENSP00000495214.1:n.7134+99T>C
ENST00000368147.8:c.7134+99T>C	ENSP00000357129.4:n.7134+99T>C
ENST00000614909.4:c.7134+99T>C	ENSP00000482595.1:n.7134+99T>C
NM_003126.2:c.7134+99T>C	NP_003117.2:n.7134+99T>C
XM_011509916.1:c.7134+99T>C	XP_011508218.1:n.7134+99T>C
XM_011509917.1:c.7116+99T>C	XP_011508219.1:n.7116+99T>C
NM_003126.3:c.7134+99T>C	NP_003117.2:n.7134+99T>C
XM_011509916.2:c.7134+99T>C	XP_011508218.1:n.7134+99T>C
XM_011509917.3:c.7116+99T>C	XP_011508219.1:n.7116+99T>C
NM_003126.4:c.7134+99T>C MANE Select	NP_003117.2:n.7134+99T>C