Canonical Allele Identifier: CA410556849

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831776G>A (hg19) ; chr21:g.46411862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411862G>A , CM000683.2:g.46411862G>A	GRCh38
NC_000021.8:g.47831776G>A , CM000683.1:g.47831776G>A	GRCh37
NC_000021.7:g.46656204G>A	NCBI36
NG_008961.1:g.92741G>A
NG_008961.2:g.92741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.134G>A
ENST00000695558.1:c.5822G>A	ENSP00000512015.1:p.Ser1941Asn
ENST00000703224.1:c.*5032G>A	ENSP00000515242.1:n.*5032G>A
ENST00000359568.10:c.5789G>A MANE Select	ENSP00000352572.5:p.Ser1930Asn
ENST00000359568.9:c.5789G>A	ENSP00000352572.5:p.Ser1930Asn
ENST00000480896.5:n.6058G>A
NM_001315529.1:c.5435G>A	NP_001302458.1:p.Ser1812Asn
NM_006031.5:c.5789G>A	NP_006022.3:p.Ser1930Asn
XM_005261124.3:c.5822G>A	XP_005261181.1:p.Ser1941Asn
XM_011529593.1:c.5900G>A	XP_011527895.1:p.Ser1967Asn
XM_011529594.1:c.5870G>A	XP_011527896.1:p.Ser1957Asn
XM_005261124.5:c.5822G>A	XP_005261181.1:p.Ser1941Asn
XM_011529594.3:c.5870G>A	XP_011527896.1:p.Ser1957Asn
XM_017028362.2:c.5789G>A	XP_016883851.1:p.Ser1930Asn
XM_017028363.1:c.5468G>A	XP_016883852.1:p.Ser1823Asn
XM_024452082.1:c.4706G>A	XP_024307850.1:p.Ser1569Asn
XM_024452083.1:c.3602G>A	XP_024307851.1:p.Ser1201Asn
NM_006031.6:c.5789G>A MANE Select	NP_006022.3:p.Ser1930Asn
NM_001315529.2:c.5435G>A	NP_001302458.1:p.Ser1812Asn