Canonical Allele Identifier: CA209496

Gene: PCNT

Linked Data

• ClinVar Variation Id: 211848
• ClinVar RCV Id: RCV000194971 ; RCV000384134 ; RCV000958145
• dbSNP Id: rs115369710
• ExAC: 21:47783815 G / A
• gnomAD v2: 21-47783815-G-A
• gnomAD v3: 21-46363900-G-A
• gnomAD v4: 21-46363900-G-A
• MyVariant Identifiers: chr21:g.47783815G>A (hg19) ; chr21:g.46363900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46363900G>A , CM000683.2:g.46363900G>A	GRCh38
NC_000021.8:g.47783815G>A , CM000683.1:g.47783815G>A	GRCh37
NC_000021.7:g.46608243G>A	NCBI36
NG_008961.1:g.44780G>A
NG_008961.2:g.44779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1071G>A	ENSP00000511987.1:n.*1071G>A
ENST00000695525.1:n.2661G>A
ENST00000695558.1:c.2575G>A	ENSP00000512015.1:p.Asp859Asn
ENST00000703224.1:c.*1818G>A	ENSP00000515242.1:n.*1818G>A
ENST00000359568.10:c.2575G>A MANE Select	ENSP00000352572.5:p.Asp859Asn
ENST00000359568.9:c.2575G>A	ENSP00000352572.5:p.Asp859Asn
ENST00000480896.5:n.2844G>A
NM_001315529.1:c.2221G>A	NP_001302458.1:p.Asp741Asn
NM_006031.5:c.2575G>A	NP_006022.3:p.Asp859Asn
XM_005261124.3:c.2575G>A	XP_005261181.1:p.Asp859Asn
XM_011529593.1:c.2656G>A	XP_011527895.1:p.Asp886Asn
XM_011529594.1:c.2656G>A	XP_011527896.1:p.Asp886Asn
XM_005261124.5:c.2575G>A	XP_005261181.1:p.Asp859Asn
XM_011529594.3:c.2656G>A	XP_011527896.1:p.Asp886Asn
XM_017028362.2:c.2575G>A	XP_016883851.1:p.Asp859Asn
XM_017028363.1:c.2221G>A	XP_016883852.1:p.Asp741Asn
XM_024452082.1:c.1459G>A	XP_024307850.1:p.Asp487Asn
XM_024452083.1:c.355G>A	XP_024307851.1:p.Asp119Asn
NM_006031.6:c.2575G>A MANE Select	NP_006022.3:p.Asp859Asn
NM_001315529.2:c.2221G>A	NP_001302458.1:p.Asp741Asn