Canonical Allele Identifier: CA406311214

Gene: APOC1

Linked Data

• MyVariant Identifiers: chr19:g.45422469A>C (hg19) ; chr19:g.44919212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44919212A>C , CM000681.2:g.44919212A>C	GRCh38
NC_000019.9:g.45422469A>C , CM000681.1:g.45422469A>C	GRCh37
NC_000019.8:g.50114309A>C	NCBI36
NG_012859.1:g.9549A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592535.6:c.234A>C MANE Select	ENSP00000468276.2:p.Lys78Asn
ENST00000586638.5:c.268A>C	ENSP00000466146.1:p.Thr90Pro
ENST00000588750.5:c.234A>C	ENSP00000465356.1:p.Lys78Asn
ENST00000588802.5:c.234A>C	ENSP00000468029.1:p.Lys78Asn
ENST00000589781.1:c.*8A>C	ENSP00000467504.1:n.*8A>C
ENST00000590334.5:c.*103A>C	ENSP00000465190.1:n.*103A>C
ENST00000592176.1:c.*234A>C	ENSP00000466227.1:n.*234A>C
ENST00000592885.5:c.379A>C	ENSP00000467368.1:p.Thr127Pro
NM_001645.3:c.234A>C	NP_001636.1:p.Lys78Asn
XM_005258855.2:c.234A>C	XP_005258912.1:p.Lys78Asn
NM_001321065.1:c.234A>C	NP_001307994.1:p.Lys78Asn
NM_001321066.1:c.234A>C	NP_001307995.1:p.Lys78Asn
NM_001645.4:c.234A>C	NP_001636.1:p.Lys78Asn
NM_001321065.2:c.234A>C	NP_001307994.1:p.Lys78Asn
NM_001321066.2:c.234A>C	NP_001307995.1:p.Lys78Asn
NM_001645.5:c.234A>C MANE Select	NP_001636.1:p.Lys78Asn
NM_001379687.1:c.379A>C	NP_001366616.1:p.Thr127Pro