Canonical Allele Identifier: CA425120937
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21260830C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21037958C>G , CM000664.2:g.21037958C>G GRCh38
NC_000002.11:g.21260830C>G , CM000664.1:g.21260830C>G GRCh37
NC_000002.10:g.21114335C>G NCBI36
NG_011793.1:g.11116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-703G>C ENSP00000501110.2:n.384-703G>C
ENST00000673882.2:c.384-703G>C ENSP00000501253.2:n.384-703G>C
ENST00000673739.1:c.252-703G>C ENSP00000501110.1:n.252-703G>C
ENST00000673882.1:c.252-703G>C ENSP00000501253.1:n.252-703G>C
ENST00000233242.5:c.537G>C MANE Select ENSP00000233242.1:p.Leu179=
ENST00000399256.4:c.537G>C ENSP00000382200.4:p.Leu179=
ENST00000616098.4:c.537G>C ENSP00000477990.1:p.Leu179=
NM_000384.2:c.537G>C NP_000375.2:p.Leu179=
XM_011532809.1:c.537G>C XP_011531111.1:p.Leu179=
NM_000384.3:c.537G>C MANE Select NP_000375.3:p.Leu179=