Canonical Allele Identifier: CA208781

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46432110G>C , CM000683.2:g.46432110G>C	GRCh38
NC_000021.8:g.47852024G>C , CM000683.1:g.47852024G>C	GRCh37
NC_000021.7:g.46676452G>C	NCBI36
NG_008961.1:g.112989G>C
NG_008961.2:g.112989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1333+132G>C
ENST00000695527.1:n.2991G>C
ENST00000695528.1:c.2679G>C	ENSP00000511990.1:p.Leu893Phe
ENST00000695529.1:n.2547+132G>C
ENST00000695530.1:c.1333+132G>C
ENST00000695531.1:n.2248G>C
ENST00000695532.1:n.2248G>C
ENST00000695533.1:n.1316G>C
ENST00000695534.1:n.1145+132G>C
ENST00000695558.1:c.8679G>C	ENSP00000512015.1:p.Leu2893Phe
ENST00000703224.1:c.*7889G>C	ENSP00000515242.1:n.*7889G>C
ENST00000703226.1:n.1316G>C
ENST00000359568.10:c.8646G>C MANE Select	ENSP00000352572.5:p.Leu2882Phe
ENST00000359568.9:c.8646G>C	ENSP00000352572.5:p.Leu2882Phe
ENST00000480896.5:n.8783+132G>C
NM_001315529.1:c.8160+132G>C	NP_001302458.1:n.8160+132G>C
NM_006031.5:c.8646G>C	NP_006022.3:p.Leu2882Phe
XM_005261124.3:c.8679G>C	XP_005261181.1:p.Leu2893Phe
XM_011529593.1:c.8757G>C	XP_011527895.1:p.Leu2919Phe
XM_011529594.1:c.8727G>C	XP_011527896.1:p.Leu2909Phe
XM_005261124.5:c.8679G>C	XP_005261181.1:p.Leu2893Phe
XM_011529594.3:c.8727G>C	XP_011527896.1:p.Leu2909Phe
XM_017028362.2:c.8514+132G>C	XP_016883851.1:n.8514+132G>C
XM_017028363.1:c.8325G>C	XP_016883852.1:p.Leu2775Phe
XM_024452082.1:c.7563G>C	XP_024307850.1:p.Leu2521Phe
XM_024452083.1:c.6459G>C	XP_024307851.1:p.Leu2153Phe
NM_006031.6:c.8646G>C MANE Select	NP_006022.3:p.Leu2882Phe
NM_001315529.2:c.8160+132G>C	NP_001302458.1:n.8160+132G>C