Canonical Allele Identifier: CA15111855

Gene: SOAT1

Linked Data

• dbSNP Id: rs1044925
• gnomAD v2: 1-179323738-C-A
• gnomAD v3: 1-179354603-C-A
• gnomAD v4: 1-179354603-C-A
• MyVariant Identifiers: chr1:g.179323738C>A (hg19) ; chr1:g.179354603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354603C>A , CM000663.2:g.179354603C>A	GRCh38
NC_000001.10:g.179323738C>A , CM000663.1:g.179323738C>A	GRCh37
NC_000001.9:g.177590361C>A	NCBI36
NG_030638.1:g.65890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*962C>A MANE Select	ENSP00000356591.3:n.*962C>A
ENST00000367619.7:c.*962C>A	ENSP00000356591.3:n.*962C>A
ENST00000539888.5:c.*962C>A	ENSP00000441356.1:n.*962C>A
ENST00000540564.5:c.*962C>A	ENSP00000445315.1:n.*962C>A
NM_001252511.1:c.*962C>A	NP_001239440.1:n.*962C>A
NM_001252512.1:c.*962C>A	NP_001239441.1:n.*962C>A
NM_003101.5:c.*962C>A	NP_003092.4:n.*962C>A
NR_045530.1:n.2765C>A
XM_011509911.1:c.*962C>A	XP_011508213.1:n.*962C>A
NM_003101.6:c.*962C>A MANE Select	NP_003092.4:n.*962C>A
NR_045530.2:n.2682C>A
NM_001252511.2:c.*962C>A	NP_001239440.1:n.*962C>A
NM_001252512.2:c.*962C>A	NP_001239441.1:n.*962C>A