Canonical Allele Identifier: CA410555887

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831661G>C (hg19) ; chr21:g.46411747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411747G>C , CM000683.2:g.46411747G>C	GRCh38
NC_000021.8:g.47831661G>C , CM000683.1:g.47831661G>C	GRCh37
NC_000021.7:g.46656089G>C	NCBI36
NG_008961.1:g.92626G>C
NG_008961.2:g.92626G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.19G>C
ENST00000695558.1:c.5707G>C	ENSP00000512015.1:p.Glu1903Gln
ENST00000703224.1:c.*4917G>C	ENSP00000515242.1:n.*4917G>C
ENST00000359568.10:c.5674G>C MANE Select	ENSP00000352572.5:p.Glu1892Gln
ENST00000359568.9:c.5674G>C	ENSP00000352572.5:p.Glu1892Gln
ENST00000480896.5:n.5943G>C
NM_001315529.1:c.5320G>C	NP_001302458.1:p.Glu1774Gln
NM_006031.5:c.5674G>C	NP_006022.3:p.Glu1892Gln
XM_005261124.3:c.5707G>C	XP_005261181.1:p.Glu1903Gln
XM_011529593.1:c.5785G>C	XP_011527895.1:p.Glu1929Gln
XM_011529594.1:c.5755G>C	XP_011527896.1:p.Glu1919Gln
XM_005261124.5:c.5707G>C	XP_005261181.1:p.Glu1903Gln
XM_011529594.3:c.5755G>C	XP_011527896.1:p.Glu1919Gln
XM_017028362.2:c.5674G>C	XP_016883851.1:p.Glu1892Gln
XM_017028363.1:c.5353G>C	XP_016883852.1:p.Glu1785Gln
XM_024452082.1:c.4591G>C	XP_024307850.1:p.Glu1531Gln
XM_024452083.1:c.3487G>C	XP_024307851.1:p.Glu1163Gln
NM_006031.6:c.5674G>C MANE Select	NP_006022.3:p.Glu1892Gln
NM_001315529.2:c.5320G>C	NP_001302458.1:p.Glu1774Gln