Canonical Allele Identifier: CA2746816758

Gene: SOAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354254G>C , CM000663.2:g.179354254G>C	GRCh38
NC_000001.10:g.179323389G>C , CM000663.1:g.179323389G>C	GRCh37
NC_000001.9:g.177590012G>C	NCBI36
NG_030638.1:g.65541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*613G>C MANE Select	ENSP00000356591.3:n.*613G>C
ENST00000367619.7:c.*613G>C	ENSP00000356591.3:n.*613G>C
ENST00000539888.5:c.*613G>C	ENSP00000441356.1:n.*613G>C
ENST00000540564.5:c.*613G>C	ENSP00000445315.1:n.*613G>C
NM_001252511.1:c.*613G>C	NP_001239440.1:n.*613G>C
NM_001252512.1:c.*613G>C	NP_001239441.1:n.*613G>C
NM_003101.5:c.*613G>C	NP_003092.4:n.*613G>C
NR_045530.1:n.2416G>C
XM_011509911.1:c.*613G>C	XP_011508213.1:n.*613G>C
NM_003101.6:c.*613G>C MANE Select	NP_003092.4:n.*613G>C
NR_045530.2:n.2333G>C
NM_001252511.2:c.*613G>C	NP_001239440.1:n.*613G>C
NM_001252512.2:c.*613G>C	NP_001239441.1:n.*613G>C