Canonical Allele Identifier: CA053437
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs759187968
gnomAD v2: 2-21224633-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001761A>C , CM000664.2:g.21001761A>C GRCh38
NC_000002.11:g.21224633A>C , CM000664.1:g.21224633A>C GRCh37
NC_000002.10:g.21078138A>C NCBI36
NG_011793.1:g.47313T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13661T>G MANE Select ENSP00000233242.1:p.Leu4554Arg
ENST00000616098.4:c.13659T>G ENSP00000477990.1:n.13659T>G
NM_000384.2:c.13661T>G NP_000375.2:p.Leu4554Arg
XM_011532809.1:c.5870-2488T>G XP_011531111.1:n.5870-2488T>G
NM_000384.3:c.13661T>G MANE Select NP_000375.3:p.Leu4554Arg