Canonical Allele Identifier: CA346014245

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21251225C>G (hg19) ; chr2:g.21028353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028353C>G , CM000664.2:g.21028353C>G	GRCh38
NC_000002.11:g.21251225C>G , CM000664.1:g.21251225C>G	GRCh37
NC_000002.10:g.21104730C>G	NCBI36
NG_011793.1:g.20721G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1109G>C	ENSP00000501110.2:n.*1109G>C
ENST00000673882.2:c.*1109G>C	ENSP00000501253.2:n.*1109G>C
ENST00000673739.1:c.1517G>C	ENSP00000501110.1:n.1517G>C
ENST00000673882.1:c.1517G>C	ENSP00000501253.1:n.1517G>C
ENST00000233242.5:c.1803G>C MANE Select	ENSP00000233242.1:p.Leu601Phe
ENST00000399256.4:c.1803G>C	ENSP00000382200.4:p.Leu601Phe
ENST00000616098.4:c.1803G>C	ENSP00000477990.1:p.Leu601Phe
NM_000384.2:c.1803G>C	NP_000375.2:p.Leu601Phe
XM_011532809.1:c.1803G>C	XP_011531111.1:p.Leu601Phe
NM_000384.3:c.1803G>C MANE Select	NP_000375.3:p.Leu601Phe