Canonical Allele Identifier: CA9506165
Gene: APOC1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44914932T>C
GRCh37 chr19:g.45418189T>C
Revel Score:
ENST00000252491 0.269
gnomAD v2:
19:45418189 T / C
gnomAD v3:
19:44914932 T / C
gnomAD v4:
chr19-44914932-T-C
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000742 (AMR)
ClinVar Allele:
2459044
ClinVar RCV:
RCV004272515
ClinVar Variation:
2483847
dbSNP:
745648350
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44914932T>C , CM000681.2:g.44914932T>C GRCh38
NC_000019.9:g.45418189T>C , CM000681.1:g.45418189T>C GRCh37
NC_000019.8:g.50110029T>C NCBI36
NG_012859.1:g.5269T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592535.6:c.41T>C MANE Select ENSP00000468276.2:p.Leu14Pro
ENST00000586638.5:c.41T>C ENSP00000466146.1:p.Leu14Pro
ENST00000588750.5:c.41T>C ENSP00000465356.1:p.Leu14Pro
ENST00000588802.5:c.41T>C ENSP00000468029.1:p.Leu14Pro
ENST00000589078.1:c.41T>C ENSP00000465710.1:p.Leu14Pro
ENST00000589781.1:c.41T>C ENSP00000467504.1:p.Leu14Pro
ENST00000590334.5:c.41T>C ENSP00000465190.1:p.Leu14Pro
ENST00000592176.1:c.41T>C ENSP00000466227.1:p.Leu14Pro
ENST00000592535.5:c.41T>C ENSP00000468276.1:p.Leu14Pro
ENST00000592885.5:c.41T>C ENSP00000467368.1:p.Leu14Pro
NM_001645.3:c.41T>C NP_001636.1:p.Leu14Pro
XM_005258855.2:c.41T>C XP_005258912.1:p.Leu14Pro
NM_001321065.1:c.41T>C NP_001307994.1:p.Leu14Pro
NM_001321066.1:c.41T>C NP_001307995.1:p.Leu14Pro
NM_001645.4:c.41T>C NP_001636.1:p.Leu14Pro
NM_001321065.2:c.41T>C NP_001307994.1:p.Leu14Pro
NM_001321066.2:c.41T>C NP_001307995.1:p.Leu14Pro
NM_001645.5:c.41T>C MANE Select NP_001636.1:p.Leu14Pro
NM_001379687.1:c.41T>C NP_001366616.1:p.Leu14Pro
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