Canonical Allele Identifier: CA10081085

Gene: PCNT

Linked Data

• ClinVar Variation Id: 895965
• ClinVar RCV Id: RCV001138352 ; RCV002556948
• dbSNP Id: rs139830890
• ExAC: 21:47855836 G / A
• gnomAD v2: 21-47855836-G-A
• gnomAD v3: 21-46435923-G-A
• gnomAD v4: 21-46435923-G-A
• COSMIC: COSM3785485
• MyVariant Identifiers: chr21:g.47855836G>A (hg19) ; chr21:g.46435923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435923G>A , CM000683.2:g.46435923G>A	GRCh38
NC_000021.8:g.47855836G>A , CM000683.1:g.47855836G>A	GRCh37
NC_000021.7:g.46680264G>A	NCBI36
NG_008961.1:g.116801G>A
NG_008961.2:g.116802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1353G>A
ENST00000695527.1:n.3116G>A
ENST00000695528.1:c.2804G>A	ENSP00000511990.1:p.Arg935His
ENST00000695529.1:n.2567G>A
ENST00000695530.1:c.1353G>A
ENST00000695531.1:n.2373G>A
ENST00000695532.1:n.2373G>A
ENST00000695533.1:n.1441G>A
ENST00000695534.1:n.1165G>A
ENST00000695535.1:n.246G>A
ENST00000695558.1:c.8804G>A	ENSP00000512015.1:p.Arg2935His
ENST00000703224.1:c.*8014G>A	ENSP00000515242.1:n.*8014G>A
ENST00000703226.1:n.1441G>A
ENST00000359568.10:c.8771G>A MANE Select	ENSP00000352572.5:p.Arg2924His
ENST00000359568.9:c.8771G>A	ENSP00000352572.5:p.Arg2924His
ENST00000480896.5:n.8803G>A
NM_001315529.1:c.8180G>A	NP_001302458.1:p.Arg2727His
NM_006031.5:c.8771G>A	NP_006022.3:p.Arg2924His
XM_005261124.3:c.8804G>A	XP_005261181.1:p.Arg2935His
XM_011529593.1:c.8882G>A	XP_011527895.1:p.Arg2961His
XM_011529594.1:c.8852G>A	XP_011527896.1:p.Arg2951His
XM_005261124.5:c.8804G>A	XP_005261181.1:p.Arg2935His
XM_011529594.3:c.8852G>A	XP_011527896.1:p.Arg2951His
XM_017028362.2:c.8534G>A	XP_016883851.1:p.Arg2845His
XM_017028363.1:c.8450G>A	XP_016883852.1:p.Arg2817His
XM_024452082.1:c.7688G>A	XP_024307850.1:p.Arg2563His
XM_024452083.1:c.6584G>A	XP_024307851.1:p.Arg2195His
NM_006031.6:c.8771G>A MANE Select	NP_006022.3:p.Arg2924His
NM_001315529.2:c.8180G>A	NP_001302458.1:p.Arg2727His