Canonical Allele Identifier: CA406311223
Gene: APOC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44919214T>C , CM000681.2:g.44919214T>C GRCh38
NC_000019.9:g.45422471T>C , CM000681.1:g.45422471T>C GRCh37
NC_000019.8:g.50114311T>C NCBI36
NG_012859.1:g.9551T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000592535.6:c.236T>C MANE Select ENSP00000468276.2:p.Leu79Pro
ENST00000586638.5:c.270T>C ENSP00000466146.1:p.Thr90=
ENST00000588750.5:c.236T>C ENSP00000465356.1:p.Leu79Pro
ENST00000588802.5:c.236T>C ENSP00000468029.1:p.Leu79Pro
ENST00000589781.1:c.*10T>C ENSP00000467504.1:n.*10T>C
ENST00000590334.5:c.*105T>C ENSP00000465190.1:n.*105T>C
ENST00000592176.1:c.*236T>C ENSP00000466227.1:n.*236T>C
ENST00000592885.5:c.381T>C ENSP00000467368.1:p.Thr127=
NM_001645.3:c.236T>C NP_001636.1:p.Leu79Pro
XM_005258855.2:c.236T>C XP_005258912.1:p.Leu79Pro
NM_001321065.1:c.236T>C NP_001307994.1:p.Leu79Pro
NM_001321066.1:c.236T>C NP_001307995.1:p.Leu79Pro
NM_001645.4:c.236T>C NP_001636.1:p.Leu79Pro
NM_001321065.2:c.236T>C NP_001307994.1:p.Leu79Pro
NM_001321066.2:c.236T>C NP_001307995.1:p.Leu79Pro
NM_001645.5:c.236T>C MANE Select NP_001636.1:p.Leu79Pro
NM_001379687.1:c.381T>C NP_001366616.1:p.Thr127=