Canonical Allele Identifier: CA43465636

Gene: APOB

Linked Data

• dbSNP Id: rs540530658
• gnomAD v3: 2-21038007-G-A
• gnomAD v4: 2-21038007-G-A
• MyVariant Identifiers: chr2:g.21260879G>A (hg19) ; chr2:g.21038007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038007G>A , CM000664.2:g.21038007G>A	GRCh38
NC_000002.11:g.21260879G>A , CM000664.1:g.21260879G>A	GRCh37
NC_000002.10:g.21114384G>A	NCBI36
NG_011793.1:g.11067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-752C>T	ENSP00000501110.2:n.384-752C>T
ENST00000673882.2:c.384-752C>T	ENSP00000501253.2:n.384-752C>T
ENST00000673739.1:c.252-752C>T	ENSP00000501110.1:n.252-752C>T
ENST00000673882.1:c.252-752C>T	ENSP00000501253.1:n.252-752C>T
ENST00000233242.5:c.488C>T MANE Select	ENSP00000233242.1:p.Ala163Val
ENST00000399256.4:c.488C>T	ENSP00000382200.4:p.Ala163Val
ENST00000616098.4:c.488C>T	ENSP00000477990.1:p.Ala163Val
NM_000384.2:c.488C>T	NP_000375.2:p.Ala163Val
XM_011532809.1:c.488C>T	XP_011531111.1:p.Ala163Val
NM_000384.3:c.488C>T MANE Select	NP_000375.3:p.Ala163Val