Canonical Allele Identifier: CA2739267745

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2876449
• ClinVar RCV Id: RCV003710287

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46326360T>A , CM000683.2:g.46326360T>A	GRCh38
NC_000021.8:g.47746274T>A , CM000683.1:g.47746274T>A	GRCh37
NC_000021.7:g.46570702T>A	NCBI36
NG_008961.1:g.7239T>A
NG_008961.2:g.7239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.55-17T>A	ENSP00000511987.1:n.55-17T>A
ENST00000695525.1:n.141-17T>A
ENST00000695526.1:c.55-17T>A	ENSP00000511988.1:n.55-17T>A
ENST00000695558.1:c.55-17T>A	ENSP00000512015.1:n.55-17T>A
ENST00000703224.1:c.55-17T>A	ENSP00000515242.1:n.55-17T>A
ENST00000703225.1:n.1473T>A
ENST00000359568.10:c.55-17T>A MANE Select	ENSP00000352572.5:n.55-17T>A
ENST00000652508.1:c.73T>A	ENSP00000498568.1:p.Ser25Thr
ENST00000359568.9:c.55-17T>A	ENSP00000352572.5:n.55-17T>A
ENST00000480896.5:n.324-17T>A
ENST00000490468.5:n.143-17T>A
NM_001315529.1:c.-300-17T>A	NP_001302458.1:n.-300-17T>A
NM_006031.5:c.55-17T>A	NP_006022.3:n.55-17T>A
XM_005261124.3:c.55-17T>A	XP_005261181.1:n.55-17T>A
XM_011529593.1:c.55-17T>A	XP_011527895.1:n.55-17T>A
XM_011529594.1:c.55-17T>A	XP_011527896.1:n.55-17T>A
XM_005261124.5:c.55-17T>A	XP_005261181.1:n.55-17T>A
XM_011529594.3:c.55-17T>A	XP_011527896.1:n.55-17T>A
XM_017028362.2:c.55-17T>A	XP_016883851.1:n.55-17T>A
XM_017028363.1:c.-300-17T>A	XP_016883852.1:n.-300-17T>A
XM_024452083.1:c.-2054-17T>A	XP_024307851.1:n.-2054-17T>A
NM_006031.6:c.55-17T>A MANE Select	NP_006022.3:n.55-17T>A
NM_001315529.2:c.-300-17T>A	NP_001302458.1:n.-300-17T>A