Canonical Allele Identifier: CA2649304932

Gene: SOAT1

Linked Data

• gnomAD v4: 1-179354473-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354473G>A , CM000663.2:g.179354473G>A	GRCh38
NC_000001.10:g.179323608G>A , CM000663.1:g.179323608G>A	GRCh37
NC_000001.9:g.177590231G>A	NCBI36
NG_030638.1:g.65760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*832G>A MANE Select	ENSP00000356591.3:n.*832G>A
ENST00000367619.7:c.*832G>A	ENSP00000356591.3:n.*832G>A
ENST00000539888.5:c.*832G>A	ENSP00000441356.1:n.*832G>A
ENST00000540564.5:c.*832G>A	ENSP00000445315.1:n.*832G>A
NM_001252511.1:c.*832G>A	NP_001239440.1:n.*832G>A
NM_001252512.1:c.*832G>A	NP_001239441.1:n.*832G>A
NM_003101.5:c.*832G>A	NP_003092.4:n.*832G>A
NR_045530.1:n.2635G>A
XM_011509911.1:c.*832G>A	XP_011508213.1:n.*832G>A
NM_003101.6:c.*832G>A MANE Select	NP_003092.4:n.*832G>A
NR_045530.2:n.2552G>A
NM_001252511.2:c.*832G>A	NP_001239440.1:n.*832G>A
NM_001252512.2:c.*832G>A	NP_001239441.1:n.*832G>A