Canonical Allele Identifier: CA2576686793
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21023473-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023473A>T , CM000664.2:g.21023473A>T GRCh38
NC_000002.11:g.21246345A>T , CM000664.1:g.21246345A>T GRCh37
NC_000002.10:g.21099850A>T NCBI36
NG_011793.1:g.25601T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1910+52T>A ENSP00000501110.2:n.*1910+52T>A
ENST00000673882.2:c.*1910+52T>A ENSP00000501253.2:n.*1910+52T>A
ENST00000673739.1:c.2318+52T>A ENSP00000501110.1:n.2318+52T>A
ENST00000673882.1:c.2318+52T>A ENSP00000501253.1:n.2318+52T>A
ENST00000233242.5:c.2604+52T>A MANE Select ENSP00000233242.1:n.2604+52T>A
ENST00000616098.4:c.2604+52T>A ENSP00000477990.1:n.2604+52T>A
NM_000384.2:c.2604+52T>A NP_000375.2:n.2604+52T>A
XM_011532809.1:c.2604+52T>A XP_011531111.1:n.2604+52T>A
NM_000384.3:c.2604+52T>A MANE Select NP_000375.3:n.2604+52T>A