Canonical Allele Identifier: CA10080922

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46431721C>T , CM000683.2:g.46431721C>T	GRCh38
NC_000021.8:g.47851635C>T , CM000683.1:g.47851635C>T	GRCh37
NC_000021.7:g.46676063C>T	NCBI36
NG_008961.1:g.112600C>T
NG_008961.2:g.112600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1076C>T
ENST00000695527.1:n.2602C>T
ENST00000695528.1:c.2290C>T	ENSP00000511990.1:p.Arg764Cys
ENST00000695529.1:n.2290C>T
ENST00000695530.1:c.1076C>T
ENST00000695531.1:n.1859C>T
ENST00000695532.1:n.1859C>T
ENST00000695533.1:n.927C>T
ENST00000695534.1:n.888C>T
ENST00000695558.1:c.8290C>T	ENSP00000512015.1:p.Arg2764Cys
ENST00000703224.1:c.*7500C>T	ENSP00000515242.1:n.*7500C>T
ENST00000703226.1:n.927C>T
ENST00000359568.10:c.8257C>T MANE Select	ENSP00000352572.5:p.Arg2753Cys
ENST00000359568.9:c.8257C>T	ENSP00000352572.5:p.Arg2753Cys
ENST00000480896.5:n.8526C>T
ENST00000482575.1:n.264C>T
NM_001315529.1:c.7903C>T	NP_001302458.1:p.Arg2635Cys
NM_006031.5:c.8257C>T	NP_006022.3:p.Arg2753Cys
XM_005261124.3:c.8290C>T	XP_005261181.1:p.Arg2764Cys
XM_011529593.1:c.8368C>T	XP_011527895.1:p.Arg2790Cys
XM_011529594.1:c.8338C>T	XP_011527896.1:p.Arg2780Cys
XM_005261124.5:c.8290C>T	XP_005261181.1:p.Arg2764Cys
XM_011529594.3:c.8338C>T	XP_011527896.1:p.Arg2780Cys
XM_017028362.2:c.8257C>T	XP_016883851.1:p.Arg2753Cys
XM_017028363.1:c.7936C>T	XP_016883852.1:p.Arg2646Cys
XM_024452082.1:c.7174C>T	XP_024307850.1:p.Arg2392Cys
XM_024452083.1:c.6070C>T	XP_024307851.1:p.Arg2024Cys
NM_006031.6:c.8257C>T MANE Select	NP_006022.3:p.Arg2753Cys
NM_001315529.2:c.7903C>T	NP_001302458.1:p.Arg2635Cys