Canonical Allele Identifier: CA346009208

Gene: APOB

Linked Data

• ClinVar Variation Id: 2681891
• ClinVar RCV Id: RCV003477183
• MyVariant Identifiers: chr2:g.21238371G>C (hg19) ; chr2:g.21015499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015499G>C , CM000664.2:g.21015499G>C	GRCh38
NC_000002.11:g.21238371G>C , CM000664.1:g.21238371G>C	GRCh37
NC_000002.10:g.21091876G>C	NCBI36
NG_011793.1:g.33575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2685C>G	ENSP00000501110.2:n.*2685C>G
ENST00000673882.2:c.*2474C>G	ENSP00000501253.2:n.*2474C>G
ENST00000673739.1:c.3093C>G	ENSP00000501110.1:n.3093C>G
ENST00000673882.1:c.2882C>G	ENSP00000501253.1:n.2882C>G
ENST00000233242.5:c.3379C>G MANE Select	ENSP00000233242.1:p.Pro1127Ala
ENST00000616098.4:c.3379C>G	ENSP00000477990.1:p.Pro1127Ala
NM_000384.2:c.3379C>G	NP_000375.2:p.Pro1127Ala
XM_011532809.1:c.3379C>G	XP_011531111.1:p.Pro1127Ala
NM_000384.3:c.3379C>G MANE Select	NP_000375.3:p.Pro1127Ala