Canonical Allele Identifier: CA2649304912

Gene: SOAT1

Linked Data

• gnomAD v4: 1-179354290-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354290C>T , CM000663.2:g.179354290C>T	GRCh38
NC_000001.10:g.179323425C>T , CM000663.1:g.179323425C>T	GRCh37
NC_000001.9:g.177590048C>T	NCBI36
NG_030638.1:g.65577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*649C>T MANE Select	ENSP00000356591.3:n.*649C>T
ENST00000367619.7:c.*649C>T	ENSP00000356591.3:n.*649C>T
ENST00000539888.5:c.*649C>T	ENSP00000441356.1:n.*649C>T
ENST00000540564.5:c.*649C>T	ENSP00000445315.1:n.*649C>T
NM_001252511.1:c.*649C>T	NP_001239440.1:n.*649C>T
NM_001252512.1:c.*649C>T	NP_001239441.1:n.*649C>T
NM_003101.5:c.*649C>T	NP_003092.4:n.*649C>T
NR_045530.1:n.2452C>T
XM_011509911.1:c.*649C>T	XP_011508213.1:n.*649C>T
NM_003101.6:c.*649C>T MANE Select	NP_003092.4:n.*649C>T
NR_045530.2:n.2369C>T
NM_001252511.2:c.*649C>T	NP_001239440.1:n.*649C>T
NM_001252512.2:c.*649C>T	NP_001239441.1:n.*649C>T