Canonical Allele Identifier: CA410556858

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831777C>A (hg19) ; chr21:g.46411863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411863C>A , CM000683.2:g.46411863C>A	GRCh38
NC_000021.8:g.47831777C>A , CM000683.1:g.47831777C>A	GRCh37
NC_000021.7:g.46656205C>A	NCBI36
NG_008961.1:g.92742C>A
NG_008961.2:g.92742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.135C>A
ENST00000695558.1:c.5823C>A	ENSP00000512015.1:p.Ser1941Arg
ENST00000703224.1:c.*5033C>A	ENSP00000515242.1:n.*5033C>A
ENST00000359568.10:c.5790C>A MANE Select	ENSP00000352572.5:p.Ser1930Arg
ENST00000359568.9:c.5790C>A	ENSP00000352572.5:p.Ser1930Arg
ENST00000480896.5:n.6059C>A
NM_001315529.1:c.5436C>A	NP_001302458.1:p.Ser1812Arg
NM_006031.5:c.5790C>A	NP_006022.3:p.Ser1930Arg
XM_005261124.3:c.5823C>A	XP_005261181.1:p.Ser1941Arg
XM_011529593.1:c.5901C>A	XP_011527895.1:p.Ser1967Arg
XM_011529594.1:c.5871C>A	XP_011527896.1:p.Ser1957Arg
XM_005261124.5:c.5823C>A	XP_005261181.1:p.Ser1941Arg
XM_011529594.3:c.5871C>A	XP_011527896.1:p.Ser1957Arg
XM_017028362.2:c.5790C>A	XP_016883851.1:p.Ser1930Arg
XM_017028363.1:c.5469C>A	XP_016883852.1:p.Ser1823Arg
XM_024452082.1:c.4707C>A	XP_024307850.1:p.Ser1569Arg
XM_024452083.1:c.3603C>A	XP_024307851.1:p.Ser1201Arg
NM_006031.6:c.5790C>A MANE Select	NP_006022.3:p.Ser1930Arg
NM_001315529.2:c.5436C>A	NP_001302458.1:p.Ser1812Arg