Canonical Allele Identifier: CA646171395

Gene: SOAT1

Linked Data

• dbSNP Id: rs1666838117
• gnomAD v3: 1-179354194-A-AT
• gnomAD v4: 1-179354194-A-AT
• COSMIC: COSN24298501

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354201dup , CM000663.2:g.179354201dup	GRCh38
NC_000001.10:g.179323336dup , CM000663.1:g.179323336dup	GRCh37
NC_000001.9:g.177589959dup	NCBI36
NG_030638.1:g.65488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*560dup MANE Select	ENSP00000356591.3:n.*560dup
ENST00000367619.7:c.*560dup	ENSP00000356591.3:n.*560dup
ENST00000539888.5:c.*560dup	ENSP00000441356.1:n.*560dup
ENST00000540564.5:c.*560dup	ENSP00000445315.1:n.*560dup
NM_001252511.1:c.*560dup	NP_001239440.1:n.*560dup
NM_001252512.1:c.*560dup	NP_001239441.1:n.*560dup
NM_003101.5:c.*560dup	NP_003092.4:n.*560dup
NR_045530.1:n.2363dup
XM_011509911.1:c.*560dup	XP_011508213.1:n.*560dup
NM_003101.6:c.*560dup MANE Select	NP_003092.4:n.*560dup
NR_045530.2:n.2280dup
NM_001252511.2:c.*560dup	NP_001239440.1:n.*560dup
NM_001252512.2:c.*560dup	NP_001239441.1:n.*560dup