Canonical Allele Identifier: CA513173694

Gene: PCNT

Linked Data

• dbSNP Id: rs1426342733
• gnomAD v2: 21-47786862-G-A
• gnomAD v4: 21-46366947-G-A
• MyVariant Identifiers: chr21:g.47786862G>A (hg19) ; chr21:g.46366947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366947G>A , CM000683.2:g.46366947G>A	GRCh38
NC_000021.8:g.47786862G>A , CM000683.1:g.47786862G>A	GRCh37
NC_000021.7:g.46611290G>A	NCBI36
NG_008961.1:g.47827G>A
NG_008961.2:g.47826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1469G>A	ENSP00000511987.1:n.*1469G>A
ENST00000695525.1:n.3059G>A
ENST00000695558.1:c.2973G>A	ENSP00000512015.1:p.Glu991=
ENST00000703224.1:c.*2216G>A	ENSP00000515242.1:n.*2216G>A
ENST00000359568.10:c.2973G>A MANE Select	ENSP00000352572.5:p.Glu991=
ENST00000359568.9:c.2973G>A	ENSP00000352572.5:p.Glu991=
ENST00000480896.5:n.3242G>A
NM_001315529.1:c.2619G>A	NP_001302458.1:p.Glu873=
NM_006031.5:c.2973G>A	NP_006022.3:p.Glu991=
XM_005261124.3:c.2973G>A	XP_005261181.1:p.Glu991=
XM_011529593.1:c.3054G>A	XP_011527895.1:p.Glu1018=
XM_011529594.1:c.3054G>A	XP_011527896.1:p.Glu1018=
XM_005261124.5:c.2973G>A	XP_005261181.1:p.Glu991=
XM_011529594.3:c.3054G>A	XP_011527896.1:p.Glu1018=
XM_017028362.2:c.2973G>A	XP_016883851.1:p.Glu991=
XM_017028363.1:c.2619G>A	XP_016883852.1:p.Glu873=
XM_024452082.1:c.1857G>A	XP_024307850.1:p.Glu619=
XM_024452083.1:c.753G>A	XP_024307851.1:p.Glu251=
NM_006031.6:c.2973G>A MANE Select	NP_006022.3:p.Glu991=
NM_001315529.2:c.2619G>A	NP_001302458.1:p.Glu873=