Canonical Allele Identifier: CA059164

Gene: APOB

Linked Data

• dbSNP Id: rs748258595
• ExAC: 2:21238074 C / A
• gnomAD v2: 2-21238074-C-A
• MyVariant Identifiers: chr2:g.21238074C>A (hg19) ; chr2:g.21015202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015202C>A , CM000664.2:g.21015202C>A	GRCh38
NC_000002.11:g.21238074C>A , CM000664.1:g.21238074C>A	GRCh37
NC_000002.10:g.21091579C>A	NCBI36
NG_011793.1:g.33872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2873G>T	ENSP00000501110.2:n.*2873G>T
ENST00000673882.2:c.*2662G>T	ENSP00000501253.2:n.*2662G>T
ENST00000673739.1:c.3281G>T	ENSP00000501110.1:n.3281G>T
ENST00000673882.1:c.3070G>T	ENSP00000501253.1:n.3070G>T
ENST00000233242.5:c.3567G>T MANE Select	ENSP00000233242.1:p.Met1189Ile
ENST00000616098.4:c.3567G>T	ENSP00000477990.1:p.Met1189Ile
NM_000384.2:c.3567G>T	NP_000375.2:p.Met1189Ile
XM_011532809.1:c.3567G>T	XP_011531111.1:p.Met1189Ile
NM_000384.3:c.3567G>T MANE Select	NP_000375.3:p.Met1189Ile