Canonical Allele Identifier: CA1028216449
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663656854
gnomAD v3: 2-21023222-A-G
gnomAD v4: 2-21023222-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023222A>G , CM000664.2:g.21023222A>G GRCh38
NC_000002.11:g.21246094A>G , CM000664.1:g.21246094A>G GRCh37
NC_000002.10:g.21099599A>G NCBI36
NG_011793.1:g.25852T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1911-180T>C ENSP00000501110.2:n.*1911-180T>C
ENST00000673882.2:c.*1911-180T>C ENSP00000501253.2:n.*1911-180T>C
ENST00000673739.1:c.2319-180T>C ENSP00000501110.1:n.2319-180T>C
ENST00000673882.1:c.2319-180T>C ENSP00000501253.1:n.2319-180T>C
ENST00000233242.5:c.2605-180T>C MANE Select ENSP00000233242.1:n.2605-180T>C
ENST00000616098.4:c.2605-180T>C ENSP00000477990.1:n.2605-180T>C
NM_000384.2:c.2605-180T>C NP_000375.2:n.2605-180T>C
XM_011532809.1:c.2605-180T>C XP_011531111.1:n.2605-180T>C
NM_000384.3:c.2605-180T>C MANE Select NP_000375.3:n.2605-180T>C