Canonical Allele Identifier: CA2520657
Gene: PCNP HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.101574245G>T
GRCh37 chr3:g.101293089G>T
Revel Score:
ENST00000265260 (MANE Select) 0.076
ENST00000296024 0.076
gnomAD v2:
3:101293089 G / T
gnomAD v3:
3:101574245 G / T
gnomAD v4:
chr3-101574245-G-T
Joint Max Group AF 0.00033872 (SAS)
Genomes Max Group AF 0.0002633 (EAS)
Exomes Max Group AF 0.00034824 (SAS)
ClinVar Allele:
3571886
ClinVar RCV:
RCV004839322
ClinVar Variation:
3415859
dbSNP:
200444775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101574245G>T , CM000665.2:g.101574245G>T GRCh38
NC_000003.11:g.101293089G>T , CM000665.1:g.101293089G>T GRCh37
NC_000003.10:g.102775779G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265260.8:c.30G>T MANE Select ENSP00000265260.3:p.Lys10Asn
ENST00000265260.7:c.30G>T ENSP00000265260.3:p.Lys10Asn
ENST00000460231.5:c.30G>T ENSP00000419390.1:p.Lys10Asn
ENST00000469941.5:c.-125G>T ENSP00000470810.1:n.-125G>T
ENST00000486406.5:n.27G>T
ENST00000498274.5:c.30G>T ENSP00000418713.1:p.Lys10Asn
ENST00000627393.1:c.30G>T ENSP00000485946.1:p.Lys10Asn
NM_020357.1:c.30G>T NP_065090.1:p.Lys10Asn
XM_011513032.1:c.93G>T XP_011511334.1:p.Lys31Asn
NM_001320395.1:c.30G>T NP_001307324.1:p.Lys10Asn
NM_001320397.1:c.30G>T NP_001307326.1:p.Lys10Asn
NM_001320398.1:c.30G>T NP_001307327.1:p.Lys10Asn
NM_001320399.1:c.-157G>T NP_001307328.1:n.-157G>T
NM_001320400.1:c.30G>T NP_001307329.1:p.Lys10Asn
NM_001320401.1:c.30G>T NP_001307330.1:p.Lys10Asn
NM_020357.2:c.30G>T NP_065090.1:p.Lys10Asn
NR_135223.1:n.152G>T
NR_135224.1:n.152G>T
NR_135225.1:n.152G>T
NR_135226.1:n.152G>T
NR_135227.1:n.152G>T
NR_135228.1:n.152G>T
NR_135229.1:n.152G>T
NR_135230.1:n.152G>T
NR_135231.1:n.152G>T
NR_135232.1:n.152G>T
XM_017006922.1:c.30G>T XP_016862411.1:p.Lys10Asn
NM_020357.3:c.30G>T MANE Select NP_065090.1:p.Lys10Asn
Search 100 bp 5'
Search 100 bp 3'