Canonical Allele Identifier: CA406311218

Gene: APOC1

Linked Data

• gnomAD v4: 19-44919213-C-G
• MyVariant Identifiers: chr19:g.45422470C>G (hg19) ; chr19:g.44919213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44919213C>G , CM000681.2:g.44919213C>G	GRCh38
NC_000019.9:g.45422470C>G , CM000681.1:g.45422470C>G	GRCh37
NC_000019.8:g.50114310C>G	NCBI36
NG_012859.1:g.9550C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592535.6:c.235C>G MANE Select	ENSP00000468276.2:p.Leu79Val
ENST00000586638.5:c.269C>G	ENSP00000466146.1:p.Thr90Ser
ENST00000588750.5:c.235C>G	ENSP00000465356.1:p.Leu79Val
ENST00000588802.5:c.235C>G	ENSP00000468029.1:p.Leu79Val
ENST00000589781.1:c.*9C>G	ENSP00000467504.1:n.*9C>G
ENST00000590334.5:c.*104C>G	ENSP00000465190.1:n.*104C>G
ENST00000592176.1:c.*235C>G	ENSP00000466227.1:n.*235C>G
ENST00000592885.5:c.380C>G	ENSP00000467368.1:p.Thr127Ser
NM_001645.3:c.235C>G	NP_001636.1:p.Leu79Val
XM_005258855.2:c.235C>G	XP_005258912.1:p.Leu79Val
NM_001321065.1:c.235C>G	NP_001307994.1:p.Leu79Val
NM_001321066.1:c.235C>G	NP_001307995.1:p.Leu79Val
NM_001645.4:c.235C>G	NP_001636.1:p.Leu79Val
NM_001321065.2:c.235C>G	NP_001307994.1:p.Leu79Val
NM_001321066.2:c.235C>G	NP_001307995.1:p.Leu79Val
NM_001645.5:c.235C>G MANE Select	NP_001636.1:p.Leu79Val
NM_001379687.1:c.380C>G	NP_001366616.1:p.Thr127Ser