Canonical Allele Identifier: CA346009142

Gene: APOB

Linked Data

• ClinVar Variation Id: 2565861
• ClinVar RCV Id: RCV003293353
• MyVariant Identifiers: chr2:g.21238340A>T (hg19) ; chr2:g.21015468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015468A>T , CM000664.2:g.21015468A>T	GRCh38
NC_000002.11:g.21238340A>T , CM000664.1:g.21238340A>T	GRCh37
NC_000002.10:g.21091845A>T	NCBI36
NG_011793.1:g.33606T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2716T>A	ENSP00000501110.2:n.*2716T>A
ENST00000673882.2:c.*2505T>A	ENSP00000501253.2:n.*2505T>A
ENST00000673739.1:c.3124T>A	ENSP00000501110.1:n.3124T>A
ENST00000673882.1:c.2913T>A	ENSP00000501253.1:n.2913T>A
ENST00000233242.5:c.3410T>A MANE Select	ENSP00000233242.1:p.Ile1137Asn
ENST00000616098.4:c.3410T>A	ENSP00000477990.1:p.Ile1137Asn
NM_000384.2:c.3410T>A	NP_000375.2:p.Ile1137Asn
XM_011532809.1:c.3410T>A	XP_011531111.1:p.Ile1137Asn
NM_000384.3:c.3410T>A MANE Select	NP_000375.3:p.Ile1137Asn