Canonical Allele Identifier: CA052689
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs767676919
gnomAD v2: 2-21224867-A-T
gnomAD v4: 2-21001995-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001995A>T , CM000664.2:g.21001995A>T GRCh38
NC_000002.11:g.21224867A>T , CM000664.1:g.21224867A>T GRCh37
NC_000002.10:g.21078372A>T NCBI36
NG_011793.1:g.47079T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13427T>A MANE Select ENSP00000233242.1:p.Ile4476Lys
ENST00000616098.4:c.13425T>A ENSP00000477990.1:n.13425T>A
NM_000384.2:c.13427T>A NP_000375.2:p.Ile4476Lys
XM_011532809.1:c.5870-2722T>A XP_011531111.1:n.5870-2722T>A
NM_000384.3:c.13427T>A MANE Select NP_000375.3:p.Ile4476Lys