Canonical Allele Identifier: CA346009135

Gene: APOB

Linked Data

• COSMIC: COSM1660575
• MyVariant Identifiers: chr2:g.21238337A>G (hg19) ; chr2:g.21015465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015465A>G , CM000664.2:g.21015465A>G	GRCh38
NC_000002.11:g.21238337A>G , CM000664.1:g.21238337A>G	GRCh37
NC_000002.10:g.21091842A>G	NCBI36
NG_011793.1:g.33609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2719T>C	ENSP00000501110.2:n.*2719T>C
ENST00000673882.2:c.*2508T>C	ENSP00000501253.2:n.*2508T>C
ENST00000673739.1:c.3127T>C	ENSP00000501110.1:n.3127T>C
ENST00000673882.1:c.2916T>C	ENSP00000501253.1:n.2916T>C
ENST00000233242.5:c.3413T>C MANE Select	ENSP00000233242.1:p.Leu1138Pro
ENST00000616098.4:c.3413T>C	ENSP00000477990.1:p.Leu1138Pro
NM_000384.2:c.3413T>C	NP_000375.2:p.Leu1138Pro
XM_011532809.1:c.3413T>C	XP_011531111.1:p.Leu1138Pro
NM_000384.3:c.3413T>C MANE Select	NP_000375.3:p.Leu1138Pro