Canonical Allele Identifier: CA207872

Gene: PCNT

Linked Data

• ClinVar Variation Id: 211887
• ClinVar RCV Id: RCV000194006
• dbSNP Id: rs797045882
• COSMIC: COSM5552013
• MyVariant Identifiers: chr21:g.47855885C>A (hg19) ; chr21:g.46435972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435972C>A , CM000683.2:g.46435972C>A	GRCh38
NC_000021.8:g.47855885C>A , CM000683.1:g.47855885C>A	GRCh37
NC_000021.7:g.46680313C>A	NCBI36
NG_008961.1:g.116850C>A
NG_008961.2:g.116851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1402C>A
ENST00000695527.1:n.3165C>A
ENST00000695528.1:c.2853C>A	ENSP00000511990.1:p.Asp951Glu
ENST00000695529.1:n.2616C>A
ENST00000695530.1:c.1402C>A
ENST00000695531.1:n.2422C>A
ENST00000695532.1:n.2422C>A
ENST00000695533.1:n.1490C>A
ENST00000695534.1:n.1214C>A
ENST00000695535.1:n.295C>A
ENST00000695558.1:c.8853C>A	ENSP00000512015.1:p.Asp2951Glu
ENST00000703224.1:c.*8063C>A	ENSP00000515242.1:n.*8063C>A
ENST00000703226.1:n.1490C>A
ENST00000359568.10:c.8820C>A MANE Select	ENSP00000352572.5:p.Asp2940Glu
ENST00000359568.9:c.8820C>A	ENSP00000352572.5:p.Asp2940Glu
ENST00000480896.5:n.8852C>A
NM_001315529.1:c.8229C>A	NP_001302458.1:p.Asp2743Glu
NM_006031.5:c.8820C>A	NP_006022.3:p.Asp2940Glu
XM_005261124.3:c.8853C>A	XP_005261181.1:p.Asp2951Glu
XM_011529593.1:c.8931C>A	XP_011527895.1:p.Asp2977Glu
XM_011529594.1:c.8901C>A	XP_011527896.1:p.Asp2967Glu
XM_005261124.5:c.8853C>A	XP_005261181.1:p.Asp2951Glu
XM_011529594.3:c.8901C>A	XP_011527896.1:p.Asp2967Glu
XM_017028362.2:c.8583C>A	XP_016883851.1:p.Asp2861Glu
XM_017028363.1:c.8499C>A	XP_016883852.1:p.Asp2833Glu
XM_024452082.1:c.7737C>A	XP_024307850.1:p.Asp2579Glu
XM_024452083.1:c.6633C>A	XP_024307851.1:p.Asp2211Glu
NM_006031.6:c.8820C>A MANE Select	NP_006022.3:p.Asp2940Glu
NM_001315529.2:c.8229C>A	NP_001302458.1:p.Asp2743Glu