Canonical Allele Identifier: CA346009205

Gene: APOB

Linked Data

• dbSNP Id: rs1385907595
• gnomAD v2: 2-21238370-G-A
• gnomAD v4: 2-21015498-G-A
• COSMIC: COSM4090902
• MyVariant Identifiers: chr2:g.21238370G>A (hg19) ; chr2:g.21015498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015498G>A , CM000664.2:g.21015498G>A	GRCh38
NC_000002.11:g.21238370G>A , CM000664.1:g.21238370G>A	GRCh37
NC_000002.10:g.21091875G>A	NCBI36
NG_011793.1:g.33576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2686C>T	ENSP00000501110.2:n.*2686C>T
ENST00000673882.2:c.*2475C>T	ENSP00000501253.2:n.*2475C>T
ENST00000673739.1:c.3094C>T	ENSP00000501110.1:n.3094C>T
ENST00000673882.1:c.2883C>T	ENSP00000501253.1:n.2883C>T
ENST00000233242.5:c.3380C>T MANE Select	ENSP00000233242.1:p.Pro1127Leu
ENST00000616098.4:c.3380C>T	ENSP00000477990.1:p.Pro1127Leu
NM_000384.2:c.3380C>T	NP_000375.2:p.Pro1127Leu
XM_011532809.1:c.3380C>T	XP_011531111.1:p.Pro1127Leu
NM_000384.3:c.3380C>T MANE Select	NP_000375.3:p.Pro1127Leu