Canonical Allele Identifier: CA346003913
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1572784061
gnomAD v3: 2-21011050-A-T
gnomAD v4: 2-21011050-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011050A>T , CM000664.2:g.21011050A>T GRCh38
NC_000002.11:g.21233922A>T , CM000664.1:g.21233922A>T GRCh37
NC_000002.10:g.21087427A>T NCBI36
NG_011793.1:g.38024T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5818T>A MANE Select ENSP00000233242.1:p.Phe1940Ile
ENST00000616098.4:c.5818T>A ENSP00000477990.1:p.Phe1940Ile
NM_000384.2:c.5818T>A NP_000375.2:p.Phe1940Ile
XM_011532809.1:c.5818T>A XP_011531111.1:p.Phe1940Ile
NM_000384.3:c.5818T>A MANE Select NP_000375.3:p.Phe1940Ile