Canonical Allele Identifier: CA050784
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs755429390
gnomAD v2: 2-21225638-A-G
gnomAD v4: 2-21002766-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002766A>G , CM000664.2:g.21002766A>G GRCh38
NC_000002.11:g.21225638A>G , CM000664.1:g.21225638A>G GRCh37
NC_000002.10:g.21079143A>G NCBI36
NG_011793.1:g.46308T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12656T>C MANE Select ENSP00000233242.1:p.Met4219Thr
ENST00000616098.4:c.12656T>C ENSP00000477990.1:p.Met4219Thr
NM_000384.2:c.12656T>C NP_000375.2:p.Met4219Thr
XM_011532809.1:c.5870-3493T>C XP_011531111.1:n.5870-3493T>C
NM_000384.3:c.12656T>C MANE Select NP_000375.3:p.Met4219Thr