Canonical Allele Identifier: CA343026590

Gene: SPTA1

Linked Data

• dbSNP Id: rs190704778
• gnomAD v2: 1-158654988-G-C
• gnomAD v4: 1-158685198-G-C
• MyVariant Identifiers: chr1:g.158654988G>C (hg19) ; chr1:g.158685198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685198G>C , CM000663.2:g.158685198G>C	GRCh38
NC_000001.10:g.158654988G>C , CM000663.1:g.158654988G>C	GRCh37
NC_000001.9:g.156921612G>C	NCBI36
NG_011474.1:g.6519C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.174C>G MANE Select	ENSP00000495214.1:p.Phe58Leu
ENST00000368147.8:c.174C>G	ENSP00000357129.4:p.Phe58Leu
ENST00000467387.1:c.132+42C>G	ENSP00000476485.1:n.132+42C>G
ENST00000614909.4:c.174C>G	ENSP00000482595.1:p.Phe58Leu
NM_003126.2:c.174C>G	NP_003117.2:p.Phe58Leu
XM_011509916.1:c.174C>G	XP_011508218.1:p.Phe58Leu
XM_011509917.1:c.174C>G	XP_011508219.1:p.Phe58Leu
XM_011509918.1:c.174C>G	XP_011508220.1:p.Phe58Leu
XM_011509919.1:c.174C>G	XP_011508221.1:p.Phe58Leu
XR_921911.1:n.287C>G
XR_921912.1:n.292C>G
NM_003126.3:c.174C>G	NP_003117.2:p.Phe58Leu
XM_011509916.2:c.174C>G	XP_011508218.1:p.Phe58Leu
XM_011509917.3:c.174C>G	XP_011508219.1:p.Phe58Leu
XM_011509918.3:c.174C>G	XP_011508220.1:p.Phe58Leu
XM_011509919.3:c.174C>G	XP_011508221.1:p.Phe58Leu
XR_921911.3:n.300C>G
XR_921912.2:n.302C>G
NM_003126.4:c.174C>G MANE Select	NP_003117.2:p.Phe58Leu