Canonical Allele Identifier: CA1181724

Gene: SPTA1

Linked Data

• dbSNP Id: rs770170829
• ExAC: 1:158582622 T / C
• gnomAD v2: 1-158582622-T-C
• gnomAD v4: 1-158612832-T-C
• MyVariant Identifiers: chr1:g.158582622T>C (hg19) ; chr1:g.158612832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612832T>C , CM000663.2:g.158612832T>C	GRCh38
NC_000001.10:g.158582622T>C , CM000663.1:g.158582622T>C	GRCh37
NC_000001.9:g.156849246T>C	NCBI36
NG_011474.1:g.78885A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7119A>G MANE Select	ENSP00000495214.1:p.Lys2373=
ENST00000368147.8:c.7119A>G	ENSP00000357129.4:p.Lys2373=
ENST00000481212.5:n.560A>G
ENST00000498708.1:n.551A>G
ENST00000614909.4:c.7119A>G	ENSP00000482595.1:p.Lys2373=
NM_003126.2:c.7119A>G	NP_003117.2:p.Lys2373=
XM_011509916.1:c.7119A>G	XP_011508218.1:p.Lys2373=
XM_011509917.1:c.7101A>G	XP_011508219.1:p.Lys2367=
NM_003126.3:c.7119A>G	NP_003117.2:p.Lys2373=
XM_011509916.2:c.7119A>G	XP_011508218.1:p.Lys2373=
XM_011509917.3:c.7101A>G	XP_011508219.1:p.Lys2367=
NM_003126.4:c.7119A>G MANE Select	NP_003117.2:p.Lys2373=