Canonical Allele Identifier: CA053239

Gene: APOB

Linked Data

• dbSNP Id: rs770544459
• ExAC: 2:21224725 C / G
• gnomAD v2: 2-21224725-C-G
• gnomAD v3: 2-21001853-C-G
• gnomAD v4: 2-21001853-C-G
• MyVariant Identifiers: chr2:g.21224725C>G (hg19) ; chr2:g.21001853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001853C>G , CM000664.2:g.21001853C>G	GRCh38
NC_000002.11:g.21224725C>G , CM000664.1:g.21224725C>G	GRCh37
NC_000002.10:g.21078230C>G	NCBI36
NG_011793.1:g.47221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13569G>C MANE Select	ENSP00000233242.1:p.Leu4523=
ENST00000616098.4:c.13567G>C	ENSP00000477990.1:n.13567G>C
NM_000384.2:c.13569G>C	NP_000375.2:p.Leu4523=
XM_011532809.1:c.5870-2580G>C	XP_011531111.1:n.5870-2580G>C
NM_000384.3:c.13569G>C MANE Select	NP_000375.3:p.Leu4523=