Canonical Allele Identifier: CA346009055
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21015426-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015426T>G , CM000664.2:g.21015426T>G GRCh38
NC_000002.11:g.21238298T>G , CM000664.1:g.21238298T>G GRCh37
NC_000002.10:g.21091803T>G NCBI36
NG_011793.1:g.33648A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2758A>C ENSP00000501110.2:n.*2758A>C
ENST00000673882.2:c.*2547A>C ENSP00000501253.2:n.*2547A>C
ENST00000673739.1:c.3166A>C ENSP00000501110.1:n.3166A>C
ENST00000673882.1:c.2955A>C ENSP00000501253.1:n.2955A>C
ENST00000233242.5:c.3452A>C MANE Select ENSP00000233242.1:p.Asp1151Ala
ENST00000616098.4:c.3452A>C ENSP00000477990.1:p.Asp1151Ala
NM_000384.2:c.3452A>C NP_000375.2:p.Asp1151Ala
XM_011532809.1:c.3452A>C XP_011531111.1:p.Asp1151Ala
NM_000384.3:c.3452A>C MANE Select NP_000375.3:p.Asp1151Ala