Canonical Allele Identifier: CA321998110

Gene: PCNT

Linked Data

• ClinVar Variation Id: 3041142
• ClinVar RCV Id: RCV003929586
• dbSNP Id: rs201631915
• gnomAD v2: 21-47831655-G-A
• gnomAD v3: 21-46411741-G-A
• gnomAD v4: 21-46411741-G-A
• MyVariant Identifiers: chr21:g.47831655G>A (hg19) ; chr21:g.46411741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411741G>A , CM000683.2:g.46411741G>A	GRCh38
NC_000021.8:g.47831655G>A , CM000683.1:g.47831655G>A	GRCh37
NC_000021.7:g.46656083G>A	NCBI36
NG_008961.1:g.92620G>A
NG_008961.2:g.92620G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.13G>A
ENST00000695558.1:c.5701G>A	ENSP00000512015.1:p.Glu1901Lys
ENST00000703224.1:c.*4911G>A	ENSP00000515242.1:n.*4911G>A
ENST00000359568.10:c.5668G>A MANE Select	ENSP00000352572.5:p.Glu1890Lys
ENST00000359568.9:c.5668G>A	ENSP00000352572.5:p.Glu1890Lys
ENST00000480896.5:n.5937G>A
NM_001315529.1:c.5314G>A	NP_001302458.1:p.Glu1772Lys
NM_006031.5:c.5668G>A	NP_006022.3:p.Glu1890Lys
XM_005261124.3:c.5701G>A	XP_005261181.1:p.Glu1901Lys
XM_011529593.1:c.5779G>A	XP_011527895.1:p.Glu1927Lys
XM_011529594.1:c.5749G>A	XP_011527896.1:p.Glu1917Lys
XM_005261124.5:c.5701G>A	XP_005261181.1:p.Glu1901Lys
XM_011529594.3:c.5749G>A	XP_011527896.1:p.Glu1917Lys
XM_017028362.2:c.5668G>A	XP_016883851.1:p.Glu1890Lys
XM_017028363.1:c.5347G>A	XP_016883852.1:p.Glu1783Lys
XM_024452082.1:c.4585G>A	XP_024307850.1:p.Glu1529Lys
XM_024452083.1:c.3481G>A	XP_024307851.1:p.Glu1161Lys
NM_006031.6:c.5668G>A MANE Select	NP_006022.3:p.Glu1890Lys
NM_001315529.2:c.5314G>A	NP_001302458.1:p.Glu1772Lys