Canonical Allele Identifier: CA061360
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs754899891
gnomAD v2: 2-21260877-G-A
gnomAD v4: 2-21038005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038005G>A , CM000664.2:g.21038005G>A GRCh38
NC_000002.11:g.21260877G>A , CM000664.1:g.21260877G>A GRCh37
NC_000002.10:g.21114382G>A NCBI36
NG_011793.1:g.11069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-750C>T ENSP00000501110.2:n.384-750C>T
ENST00000673882.2:c.384-750C>T ENSP00000501253.2:n.384-750C>T
ENST00000673739.1:c.252-750C>T ENSP00000501110.1:n.252-750C>T
ENST00000673882.1:c.252-750C>T ENSP00000501253.1:n.252-750C>T
ENST00000233242.5:c.490C>T MANE Select ENSP00000233242.1:p.Leu164Phe
ENST00000399256.4:c.490C>T ENSP00000382200.4:p.Leu164Phe
ENST00000616098.4:c.490C>T ENSP00000477990.1:p.Leu164Phe
NM_000384.2:c.490C>T NP_000375.2:p.Leu164Phe
XM_011532809.1:c.490C>T XP_011531111.1:p.Leu164Phe
NM_000384.3:c.490C>T MANE Select NP_000375.3:p.Leu164Phe