Canonical Allele Identifier: CA043029
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs755913225
gnomAD v2: 2-21229452-T-C
gnomAD v3: 2-21006580-T-C
gnomAD v4: 2-21006580-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006580T>C , CM000664.2:g.21006580T>C GRCh38
NC_000002.11:g.21229452T>C , CM000664.1:g.21229452T>C GRCh37
NC_000002.10:g.21082957T>C NCBI36
NG_011793.1:g.42494A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10288A>G MANE Select ENSP00000233242.1:p.Lys3430Glu
ENST00000616098.4:c.10288A>G ENSP00000477990.1:p.Lys3430Glu
NM_000384.2:c.10288A>G NP_000375.2:p.Lys3430Glu
XM_011532809.1:c.5869+4153A>G XP_011531111.1:n.5869+4153A>G
NM_000384.3:c.10288A>G MANE Select NP_000375.3:p.Lys3430Glu