Canonical Allele Identifier: CA425346069
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1448468665
gnomAD v2: 2-21233776-G-A
gnomAD v4: 2-21010904-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010904G>A , CM000664.2:g.21010904G>A GRCh38
NC_000002.11:g.21233776G>A , CM000664.1:g.21233776G>A GRCh37
NC_000002.10:g.21087281G>A NCBI36
NG_011793.1:g.38170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5964C>T MANE Select ENSP00000233242.1:p.Asn1988=
ENST00000616098.4:c.5964C>T ENSP00000477990.1:p.Asn1988=
NM_000384.2:c.5964C>T NP_000375.2:p.Asn1988=
XM_011532809.1:c.5864+100C>T XP_011531111.1:n.5864+100C>T
NM_000384.3:c.5964C>T MANE Select NP_000375.3:p.Asn1988=