Canonical Allele Identifier: CA060102

Gene: APOB

Linked Data

• ClinVar Variation Id: 488157
• ClinVar RCV Id: RCV000578076 ; RCV000578022 ; RCV002367976
• dbSNP Id: rs201368319
• ExAC: 2:21260981 T / C
• gnomAD v2: 2-21260981-T-C
• gnomAD v3: 2-21038109-T-C
• gnomAD v4: 2-21038109-T-C
• MyVariant Identifiers: chr2:g.21260981T>C (hg19) ; chr2:g.21038109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038109T>C , CM000664.2:g.21038109T>C	GRCh38
NC_000002.11:g.21260981T>C , CM000664.1:g.21260981T>C	GRCh37
NC_000002.10:g.21114486T>C	NCBI36
NG_011793.1:g.10965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-854A>G	ENSP00000501110.2:n.384-854A>G
ENST00000673882.2:c.384-854A>G	ENSP00000501253.2:n.384-854A>G
ENST00000673739.1:c.252-854A>G	ENSP00000501110.1:n.252-854A>G
ENST00000673882.1:c.252-854A>G	ENSP00000501253.1:n.252-854A>G
ENST00000233242.5:c.386A>G MANE Select	ENSP00000233242.1:p.Tyr129Cys
ENST00000399256.4:c.386A>G	ENSP00000382200.4:p.Tyr129Cys
ENST00000616098.4:c.386A>G	ENSP00000477990.1:p.Tyr129Cys
NM_000384.2:c.386A>G	NP_000375.2:p.Tyr129Cys
XM_011532809.1:c.386A>G	XP_011531111.1:p.Tyr129Cys
NM_000384.3:c.386A>G MANE Select	NP_000375.3:p.Tyr129Cys