Canonical Allele Identifier: CA1009659612

Gene: SOAT1

Linked Data

• dbSNP Id: rs1666848462
• gnomAD v3: 1-179354585-C-T
• gnomAD v4: 1-179354585-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354585C>T , CM000663.2:g.179354585C>T	GRCh38
NC_000001.10:g.179323720C>T , CM000663.1:g.179323720C>T	GRCh37
NC_000001.9:g.177590343C>T	NCBI36
NG_030638.1:g.65872C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367619.8:c.*944C>T MANE Select	ENSP00000356591.3:n.*944C>T
ENST00000367619.7:c.*944C>T	ENSP00000356591.3:n.*944C>T
ENST00000539888.5:c.*944C>T	ENSP00000441356.1:n.*944C>T
ENST00000540564.5:c.*944C>T	ENSP00000445315.1:n.*944C>T
NM_001252511.1:c.*944C>T	NP_001239440.1:n.*944C>T
NM_001252512.1:c.*944C>T	NP_001239441.1:n.*944C>T
NM_003101.5:c.*944C>T	NP_003092.4:n.*944C>T
NR_045530.1:n.2747C>T
XM_011509911.1:c.*944C>T	XP_011508213.1:n.*944C>T
NM_003101.6:c.*944C>T MANE Select	NP_003092.4:n.*944C>T
NR_045530.2:n.2664C>T
NM_001252511.2:c.*944C>T	NP_001239440.1:n.*944C>T
NM_001252512.2:c.*944C>T	NP_001239441.1:n.*944C>T