Canonical Allele Identifier: CA2658048744
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21037904-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21037904A>G , CM000664.2:g.21037904A>G GRCh38
NC_000002.11:g.21260776A>G , CM000664.1:g.21260776A>G GRCh37
NC_000002.10:g.21114281A>G NCBI36
NG_011793.1:g.11170T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-649T>C ENSP00000501110.2:n.384-649T>C
ENST00000673882.2:c.384-649T>C ENSP00000501253.2:n.384-649T>C
ENST00000673739.1:c.252-649T>C ENSP00000501110.1:n.252-649T>C
ENST00000673882.1:c.252-649T>C ENSP00000501253.1:n.252-649T>C
ENST00000233242.5:c.537+54T>C MANE Select ENSP00000233242.1:n.537+54T>C
ENST00000399256.4:c.537+54T>C ENSP00000382200.4:n.537+54T>C
ENST00000616098.4:c.537+54T>C ENSP00000477990.1:n.537+54T>C
NM_000384.2:c.537+54T>C NP_000375.2:n.537+54T>C
XM_011532809.1:c.537+54T>C XP_011531111.1:n.537+54T>C
NM_000384.3:c.537+54T>C MANE Select NP_000375.3:n.537+54T>C