Canonical Allele Identifier: CA208549

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46418215C>T , CM000683.2:g.46418215C>T	GRCh38
NC_000021.8:g.47838129C>T , CM000683.1:g.47838129C>T	GRCh37
NC_000021.7:g.46662557C>T	NCBI36
NG_008961.1:g.99094C>T
NG_008961.2:g.99094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.1278C>T
ENST00000695528.1:c.1107C>T	ENSP00000511990.1:p.Val369=
ENST00000695529.1:n.1107C>T
ENST00000695558.1:c.6966C>T	ENSP00000512015.1:p.Val2322=
ENST00000703224.1:c.*6176C>T	ENSP00000515242.1:n.*6176C>T
ENST00000359568.10:c.6933C>T MANE Select	ENSP00000352572.5:p.Val2311=
ENST00000359568.9:c.6933C>T	ENSP00000352572.5:p.Val2311=
ENST00000480896.5:n.7202C>T
NM_001315529.1:c.6579C>T	NP_001302458.1:p.Val2193=
NM_006031.5:c.6933C>T	NP_006022.3:p.Val2311=
XM_005261124.3:c.6966C>T	XP_005261181.1:p.Val2322=
XM_011529593.1:c.7044C>T	XP_011527895.1:p.Val2348=
XM_011529594.1:c.7014C>T	XP_011527896.1:p.Val2338=
XM_005261124.5:c.6966C>T	XP_005261181.1:p.Val2322=
XM_011529594.3:c.7014C>T	XP_011527896.1:p.Val2338=
XM_017028362.2:c.6933C>T	XP_016883851.1:p.Val2311=
XM_017028363.1:c.6612C>T	XP_016883852.1:p.Val2204=
XM_024452082.1:c.5850C>T	XP_024307850.1:p.Val1950=
XM_024452083.1:c.4746C>T	XP_024307851.1:p.Val1582=
NM_006031.6:c.6933C>T MANE Select	NP_006022.3:p.Val2311=
NM_001315529.2:c.6579C>T	NP_001302458.1:p.Val2193=