Canonical Allele Identifier: CA346001240
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1440962390
gnomAD v2: 2-21233101-A-T
gnomAD v3: 2-21010229-A-T
gnomAD v4: 2-21010229-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010229A>T , CM000664.2:g.21010229A>T GRCh38
NC_000002.11:g.21233101A>T , CM000664.1:g.21233101A>T GRCh37
NC_000002.10:g.21086606A>T NCBI36
NG_011793.1:g.38845T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6639T>A MANE Select ENSP00000233242.1:p.Asp2213Glu
ENST00000616098.4:c.6639T>A ENSP00000477990.1:p.Asp2213Glu
NM_000384.2:c.6639T>A NP_000375.2:p.Asp2213Glu
XM_011532809.1:c.5869+504T>A XP_011531111.1:n.5869+504T>A
NM_000384.3:c.6639T>A MANE Select NP_000375.3:p.Asp2213Glu