Canonical Allele Identifier: CA173002

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46397333C>T , CM000683.2:g.46397333C>T	GRCh38
NC_000021.8:g.47817247C>T , CM000683.1:g.47817247C>T	GRCh37
NC_000021.7:g.46641675C>T	NCBI36
NG_008961.1:g.78212C>T
NG_008961.2:g.78212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.4318C>T	ENSP00000512015.1:p.Arg1440Cys
ENST00000703224.1:c.*3528C>T	ENSP00000515242.1:n.*3528C>T
ENST00000359568.10:c.4285C>T MANE Select	ENSP00000352572.5:p.Arg1429Cys
ENST00000359568.9:c.4285C>T	ENSP00000352572.5:p.Arg1429Cys
ENST00000480896.5:n.4554C>T
NM_001315529.1:c.3931C>T	NP_001302458.1:p.Arg1311Cys
NM_006031.5:c.4285C>T	NP_006022.3:p.Arg1429Cys
XM_005261124.3:c.4318C>T	XP_005261181.1:p.Arg1440Cys
XM_011529593.1:c.4399C>T	XP_011527895.1:p.Arg1467Cys
XM_011529594.1:c.4366C>T	XP_011527896.1:p.Arg1456Cys
XM_005261124.5:c.4318C>T	XP_005261181.1:p.Arg1440Cys
XM_011529594.3:c.4366C>T	XP_011527896.1:p.Arg1456Cys
XM_017028362.2:c.4285C>T	XP_016883851.1:p.Arg1429Cys
XM_017028363.1:c.3964C>T	XP_016883852.1:p.Arg1322Cys
XM_024452082.1:c.3202C>T	XP_024307850.1:p.Arg1068Cys
XM_024452083.1:c.2098C>T	XP_024307851.1:p.Arg700Cys
NM_006031.6:c.4285C>T MANE Select	NP_006022.3:p.Arg1429Cys
NM_001315529.2:c.3931C>T	NP_001302458.1:p.Arg1311Cys