Canonical Allele Identifier: CA066985

Gene: APOB

Linked Data

• ClinVar Variation Id: 544097
• ClinVar RCV Id: RCV001838045 ; RCV001335284 ; RCV001584512
• dbSNP Id: rs146687604
• ExAC: 2:21229803 G / T
• gnomAD v2: 2-21229803-G-T
• gnomAD v3: 2-21006931-G-T
• gnomAD v4: 2-21006931-G-T
• MyVariant Identifiers: chr2:g.21229803G>T (hg19) ; chr2:g.21006931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21006931G>T , CM000664.2:g.21006931G>T	GRCh38
NC_000002.11:g.21229803G>T , CM000664.1:g.21229803G>T	GRCh37
NC_000002.10:g.21083308G>T	NCBI36
NG_011793.1:g.42143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9937C>A MANE Select	ENSP00000233242.1:p.Leu3313Ile
ENST00000616098.4:c.9937C>A	ENSP00000477990.1:p.Leu3313Ile
NM_000384.2:c.9937C>A	NP_000375.2:p.Leu3313Ile
XM_011532809.1:c.5869+3802C>A	XP_011531111.1:n.5869+3802C>A
NM_000384.3:c.9937C>A MANE Select	NP_000375.3:p.Leu3313Ile