Canonical Allele Identifier: CA345962808
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21038101-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038101T>G , CM000664.2:g.21038101T>G GRCh38
NC_000002.11:g.21260973T>G , CM000664.1:g.21260973T>G GRCh37
NC_000002.10:g.21114478T>G NCBI36
NG_011793.1:g.10973A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.384-846A>C ENSP00000501110.2:n.384-846A>C
ENST00000673882.2:c.384-846A>C ENSP00000501253.2:n.384-846A>C
ENST00000673739.1:c.252-846A>C ENSP00000501110.1:n.252-846A>C
ENST00000673882.1:c.252-846A>C ENSP00000501253.1:n.252-846A>C
ENST00000233242.5:c.394A>C MANE Select ENSP00000233242.1:p.Lys132Gln
ENST00000399256.4:c.394A>C ENSP00000382200.4:p.Lys132Gln
ENST00000616098.4:c.394A>C ENSP00000477990.1:p.Lys132Gln
NM_000384.2:c.394A>C NP_000375.2:p.Lys132Gln
XM_011532809.1:c.394A>C XP_011531111.1:p.Lys132Gln
NM_000384.3:c.394A>C MANE Select NP_000375.3:p.Lys132Gln