Canonical Allele Identifier: CA308897702

Gene: APOC1

Linked Data

• dbSNP Id: rs12721054
• gnomAD v2: 19-45422587-A-G
• gnomAD v3: 19-44919330-A-G
• gnomAD v4: 19-44919330-A-G
• MyVariant Identifiers: chr19:g.45422587A>G (hg19) ; chr19:g.44919330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44919330A>G , CM000681.2:g.44919330A>G	GRCh38
NC_000019.9:g.45422587A>G , CM000681.1:g.45422587A>G	GRCh37
NC_000019.8:g.50114427A>G	NCBI36
NG_012859.1:g.9667A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592535.6:c.*100A>G MANE Select	ENSP00000468276.2:n.*100A>G
ENST00000586638.5:c.*107A>G	ENSP00000466146.1:n.*107A>G
ENST00000588750.5:c.*100A>G	ENSP00000465356.1:n.*100A>G
ENST00000588802.5:c.*100A>G	ENSP00000468029.1:n.*100A>G
ENST00000589781.1:c.*126A>G	ENSP00000467504.1:n.*126A>G
ENST00000590334.5:c.*221A>G	ENSP00000465190.1:n.*221A>G
ENST00000592176.1:c.*352A>G	ENSP00000466227.1:n.*352A>G
ENST00000592885.5:c.*107A>G	ENSP00000467368.1:n.*107A>G
NM_001645.3:c.*100A>G	NP_001636.1:n.*100A>G
XM_005258855.2:c.*100A>G	XP_005258912.1:n.*100A>G
NM_001321065.1:c.*100A>G	NP_001307994.1:n.*100A>G
NM_001321066.1:c.*100A>G	NP_001307995.1:n.*100A>G
NM_001645.4:c.*100A>G	NP_001636.1:n.*100A>G
NM_001321065.2:c.*100A>G	NP_001307994.1:n.*100A>G
NM_001321066.2:c.*100A>G	NP_001307995.1:n.*100A>G
NM_001645.5:c.*100A>G MANE Select	NP_001636.1:n.*100A>G
NM_001379687.1:c.*107A>G	NP_001366616.1:n.*107A>G