Canonical Allele Identifier: CA066988
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs767500050
gnomAD v2: 2-21229791-G-A
gnomAD v4: 2-21006919-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006919G>A , CM000664.2:g.21006919G>A GRCh38
NC_000002.11:g.21229791G>A , CM000664.1:g.21229791G>A GRCh37
NC_000002.10:g.21083296G>A NCBI36
NG_011793.1:g.42155C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9949C>T MANE Select ENSP00000233242.1:p.Leu3317Phe
ENST00000616098.4:c.9949C>T ENSP00000477990.1:p.Leu3317Phe
NM_000384.2:c.9949C>T NP_000375.2:p.Leu3317Phe
XM_011532809.1:c.5869+3814C>T XP_011531111.1:n.5869+3814C>T
NM_000384.3:c.9949C>T MANE Select NP_000375.3:p.Leu3317Phe