Canonical Allele Identifier: CA346002162
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663287239
gnomAD v4: 2-21010616-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010616A>T , CM000664.2:g.21010616A>T GRCh38
NC_000002.11:g.21233488A>T , CM000664.1:g.21233488A>T GRCh37
NC_000002.10:g.21086993A>T NCBI36
NG_011793.1:g.38458T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.6252T>A MANE Select ENSP00000233242.1:p.Asn2084Lys
ENST00000616098.4:c.6252T>A ENSP00000477990.1:p.Asn2084Lys
NM_000384.2:c.6252T>A NP_000375.2:p.Asn2084Lys
XM_011532809.1:c.5869+117T>A XP_011531111.1:n.5869+117T>A
NM_000384.3:c.6252T>A MANE Select NP_000375.3:p.Asn2084Lys