Canonical Allele Identifier: CA889965559

Gene: SPTA1

Linked Data

• dbSNP Id: rs1271258083
• gnomAD v3: 1-158612677-G-C
• gnomAD v4: 1-158612677-G-C
• MyVariant Identifiers: chr1:g.158582467G>C (hg19) ; chr1:g.158612677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612677G>C , CM000663.2:g.158612677G>C	GRCh38
NC_000001.10:g.158582467G>C , CM000663.1:g.158582467G>C	GRCh37
NC_000001.9:g.156849091G>C	NCBI36
NG_011474.1:g.79040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+140C>G MANE Select	ENSP00000495214.1:n.7134+140C>G
ENST00000368147.8:c.7134+140C>G	ENSP00000357129.4:n.7134+140C>G
ENST00000614909.4:c.7134+140C>G	ENSP00000482595.1:n.7134+140C>G
NM_003126.2:c.7134+140C>G	NP_003117.2:n.7134+140C>G
XM_011509916.1:c.7134+140C>G	XP_011508218.1:n.7134+140C>G
XM_011509917.1:c.7116+140C>G	XP_011508219.1:n.7116+140C>G
NM_003126.3:c.7134+140C>G	NP_003117.2:n.7134+140C>G
XM_011509916.2:c.7134+140C>G	XP_011508218.1:n.7134+140C>G
XM_011509917.3:c.7116+140C>G	XP_011508219.1:n.7116+140C>G
NM_003126.4:c.7134+140C>G MANE Select	NP_003117.2:n.7134+140C>G