Canonical Allele Identifier: CA058814
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 265884
dbSNP Id: rs199859104
gnomAD v2: 2-21238325-G-A
gnomAD v3: 2-21015453-G-A
gnomAD v4: 2-21015453-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015453G>A , CM000664.2:g.21015453G>A GRCh38
NC_000002.11:g.21238325G>A , CM000664.1:g.21238325G>A GRCh37
NC_000002.10:g.21091830G>A NCBI36
NG_011793.1:g.33621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2731C>T ENSP00000501110.2:n.*2731C>T
ENST00000673882.2:c.*2520C>T ENSP00000501253.2:n.*2520C>T
ENST00000673739.1:c.3139C>T ENSP00000501110.1:n.3139C>T
ENST00000673882.1:c.2928C>T ENSP00000501253.1:n.2928C>T
ENST00000233242.5:c.3425C>T MANE Select ENSP00000233242.1:p.Ser1142Leu
ENST00000616098.4:c.3425C>T ENSP00000477990.1:p.Ser1142Leu
NM_000384.2:c.3425C>T NP_000375.2:p.Ser1142Leu
XM_011532809.1:c.3425C>T XP_011531111.1:p.Ser1142Leu
NM_000384.3:c.3425C>T MANE Select NP_000375.3:p.Ser1142Leu