Canonical Allele Identifier: CA425347276
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1572787778
MyVariant Identifiers: chr2:g.21238122C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015250C>T , CM000664.2:g.21015250C>T GRCh38
NC_000002.11:g.21238122C>T , CM000664.1:g.21238122C>T GRCh37
NC_000002.10:g.21091627C>T NCBI36
NG_011793.1:g.33824G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2825G>A ENSP00000501110.2:n.*2825G>A
ENST00000673882.2:c.*2614G>A ENSP00000501253.2:n.*2614G>A
ENST00000673739.1:c.3233G>A ENSP00000501110.1:n.3233G>A
ENST00000673882.1:c.3022G>A ENSP00000501253.1:n.3022G>A
ENST00000233242.5:c.3519G>A MANE Select ENSP00000233242.1:p.Lys1173=
ENST00000616098.4:c.3519G>A ENSP00000477990.1:p.Lys1173=
NM_000384.2:c.3519G>A NP_000375.2:p.Lys1173=
XM_011532809.1:c.3519G>A XP_011531111.1:p.Lys1173=
NM_000384.3:c.3519G>A MANE Select NP_000375.3:p.Lys1173=