Canonical Allele Identifier: CA346014365

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21251250A>G (hg19) ; chr2:g.21028378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028378A>G , CM000664.2:g.21028378A>G	GRCh38
NC_000002.11:g.21251250A>G , CM000664.1:g.21251250A>G	GRCh37
NC_000002.10:g.21104755A>G	NCBI36
NG_011793.1:g.20696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1084T>C	ENSP00000501110.2:n.*1084T>C
ENST00000673882.2:c.*1084T>C	ENSP00000501253.2:n.*1084T>C
ENST00000673739.1:c.1492T>C	ENSP00000501110.1:n.1492T>C
ENST00000673882.1:c.1492T>C	ENSP00000501253.1:n.1492T>C
ENST00000233242.5:c.1778T>C MANE Select	ENSP00000233242.1:p.Val593Ala
ENST00000399256.4:c.1778T>C	ENSP00000382200.4:p.Val593Ala
ENST00000616098.4:c.1778T>C	ENSP00000477990.1:p.Val593Ala
NM_000384.2:c.1778T>C	NP_000375.2:p.Val593Ala
XM_011532809.1:c.1778T>C	XP_011531111.1:p.Val593Ala
NM_000384.3:c.1778T>C MANE Select	NP_000375.3:p.Val593Ala