Canonical Allele Identifier: CA425121313

Gene: APOB

Linked Data

• dbSNP Id: rs1354518734
• gnomAD v2: 2-21260970-G-A
• gnomAD v4: 2-21038098-G-A
• MyVariant Identifiers: chr2:g.21260970G>A (hg19) ; chr2:g.21038098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038098G>A , CM000664.2:g.21038098G>A	GRCh38
NC_000002.11:g.21260970G>A , CM000664.1:g.21260970G>A	GRCh37
NC_000002.10:g.21114475G>A	NCBI36
NG_011793.1:g.10976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.384-843C>T	ENSP00000501110.2:n.384-843C>T
ENST00000673882.2:c.384-843C>T	ENSP00000501253.2:n.384-843C>T
ENST00000673739.1:c.252-843C>T	ENSP00000501110.1:n.252-843C>T
ENST00000673882.1:c.252-843C>T	ENSP00000501253.1:n.252-843C>T
ENST00000233242.5:c.397C>T MANE Select	ENSP00000233242.1:p.Leu133=
ENST00000399256.4:c.397C>T	ENSP00000382200.4:p.Leu133=
ENST00000616098.4:c.397C>T	ENSP00000477990.1:p.Leu133=
NM_000384.2:c.397C>T	NP_000375.2:p.Leu133=
XM_011532809.1:c.397C>T	XP_011531111.1:p.Leu133=
NM_000384.3:c.397C>T MANE Select	NP_000375.3:p.Leu133=