Canonical Allele Identifier: CA1009659590

Gene: SOAT1

Linked Data

• dbSNP Id: rs1666844526
• gnomAD v3: 1-179354460-A-G
• gnomAD v4: 1-179354460-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354460A>G , CM000663.2:g.179354460A>G	GRCh38
NC_000001.10:g.179323595A>G , CM000663.1:g.179323595A>G	GRCh37
NC_000001.9:g.177590218A>G	NCBI36
NG_030638.1:g.65747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*819A>G MANE Select	ENSP00000356591.3:n.*819A>G
ENST00000367619.7:c.*819A>G	ENSP00000356591.3:n.*819A>G
ENST00000539888.5:c.*819A>G	ENSP00000441356.1:n.*819A>G
ENST00000540564.5:c.*819A>G	ENSP00000445315.1:n.*819A>G
NM_001252511.1:c.*819A>G	NP_001239440.1:n.*819A>G
NM_001252512.1:c.*819A>G	NP_001239441.1:n.*819A>G
NM_003101.5:c.*819A>G	NP_003092.4:n.*819A>G
NR_045530.1:n.2622A>G
XM_011509911.1:c.*819A>G	XP_011508213.1:n.*819A>G
NM_003101.6:c.*819A>G MANE Select	NP_003092.4:n.*819A>G
NR_045530.2:n.2539A>G
NM_001252511.2:c.*819A>G	NP_001239440.1:n.*819A>G
NM_001252512.2:c.*819A>G	NP_001239441.1:n.*819A>G