Canonical Allele Identifier: CA022778

Gene: APOB

Linked Data

• ClinVar Variation Id: 128417
• ClinVar RCV Id: RCV000116381 ; RCV000256314 ; RCV000268700 ; RCV000771040 ; RCV001094720
• dbSNP Id: rs1042031
• ExAC: 2:21225753 C / T
• gnomAD v2: 2-21225753-C-T
• gnomAD v3: 2-21002881-C-T
• gnomAD v4: 2-21002881-C-T
• MyVariant Identifiers: chr2:g.21225753C>T (hg19) ; chr2:g.21002881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002881C>T , CM000664.2:g.21002881C>T	GRCh38
NC_000002.11:g.21225753C>T , CM000664.1:g.21225753C>T	GRCh37
NC_000002.10:g.21079258C>T	NCBI36
NG_011793.1:g.46193G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233242.5:c.12541G>A MANE Select	ENSP00000233242.1:p.Glu4181Lys
ENST00000616098.4:c.12541G>A	ENSP00000477990.1:p.Glu4181Lys
NM_000384.2:c.12541G>A	NP_000375.2:p.Glu4181Lys
XM_011532809.1:c.5870-3608G>A	XP_011531111.1:n.5870-3608G>A
NM_000384.3:c.12541G>A MANE Select	NP_000375.3:p.Glu4181Lys