Canonical Allele Identifier: CA060557

Gene: APOB

Linked Data

• dbSNP Id: rs776319722
• ExAC: 2:21260954 C / A
• gnomAD v2: 2-21260954-C-A
• gnomAD v4: 2-21038082-C-A
• MyVariant Identifiers: chr2:g.21260954C>A (hg19) ; chr2:g.21038082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038082C>A , CM000664.2:g.21038082C>A	GRCh38
NC_000002.11:g.21260954C>A , CM000664.1:g.21260954C>A	GRCh37
NC_000002.10:g.21114459C>A	NCBI36
NG_011793.1:g.10992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-827G>T	ENSP00000501110.2:n.384-827G>T
ENST00000673882.2:c.384-827G>T	ENSP00000501253.2:n.384-827G>T
ENST00000673739.1:c.252-827G>T	ENSP00000501110.1:n.252-827G>T
ENST00000673882.1:c.252-827G>T	ENSP00000501253.1:n.252-827G>T
ENST00000233242.5:c.413G>T MANE Select	ENSP00000233242.1:p.Gly138Val
ENST00000399256.4:c.413G>T	ENSP00000382200.4:p.Gly138Val
ENST00000616098.4:c.413G>T	ENSP00000477990.1:p.Gly138Val
NM_000384.2:c.413G>T	NP_000375.2:p.Gly138Val
XM_011532809.1:c.413G>T	XP_011531111.1:p.Gly138Val
NM_000384.3:c.413G>T MANE Select	NP_000375.3:p.Gly138Val