Canonical Allele Identifier: CA2493479031
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015434G= , CM000664.2:g.21015434G= GRCh38
NC_000002.11:g.21238306G= , CM000664.1:g.21238306G= GRCh37
NC_000002.10:g.21091811G= NCBI36
NG_011793.1:g.33640C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2750C= ENSP00000501110.2:n.*2750C=
ENST00000673882.2:c.*2539C= ENSP00000501253.2:n.*2539C=
ENST00000673739.1:c.3158C= ENSP00000501110.1:n.3158C=
ENST00000673882.1:c.2947C= ENSP00000501253.1:n.2947C=
ENST00000233242.5:c.3444C= MANE Select ENSP00000233242.1:p.Leu1148=
ENST00000616098.4:c.3444C= ENSP00000477990.1:p.Leu1148=
NM_000384.2:c.3444C= NP_000375.2:p.Leu1148=
XM_011532809.1:c.3444C= XP_011531111.1:p.Leu1148=
NM_000384.3:c.3444C= MANE Select NP_000375.3:p.Leu1148=