Canonical Allele Identifier: CA410574072

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46432159C>T , CM000683.2:g.46432159C>T	GRCh38
NC_000021.8:g.47852073C>T , CM000683.1:g.47852073C>T	GRCh37
NC_000021.7:g.46676501C>T	NCBI36
NG_008961.1:g.113038C>T
NG_008961.2:g.113038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1333+181C>T
ENST00000695527.1:n.3040C>T
ENST00000695528.1:c.2728C>T	ENSP00000511990.1:p.Gln910Ter
ENST00000695529.1:n.2547+181C>T
ENST00000695530.1:c.1333+181C>T
ENST00000695531.1:n.2297C>T
ENST00000695532.1:n.2297C>T
ENST00000695533.1:n.1365C>T
ENST00000695534.1:n.1145+181C>T
ENST00000695558.1:c.8728C>T	ENSP00000512015.1:p.Gln2910Ter
ENST00000703224.1:c.*7938C>T	ENSP00000515242.1:n.*7938C>T
ENST00000703226.1:n.1365C>T
ENST00000359568.10:c.8695C>T MANE Select	ENSP00000352572.5:p.Gln2899Ter
ENST00000359568.9:c.8695C>T	ENSP00000352572.5:p.Gln2899Ter
ENST00000480896.5:n.8783+181C>T
NM_001315529.1:c.8160+181C>T	NP_001302458.1:n.8160+181C>T
NM_006031.5:c.8695C>T	NP_006022.3:p.Gln2899Ter
XM_005261124.3:c.8728C>T	XP_005261181.1:p.Gln2910Ter
XM_011529593.1:c.8806C>T	XP_011527895.1:p.Gln2936Ter
XM_011529594.1:c.8776C>T	XP_011527896.1:p.Gln2926Ter
XM_005261124.5:c.8728C>T	XP_005261181.1:p.Gln2910Ter
XM_011529594.3:c.8776C>T	XP_011527896.1:p.Gln2926Ter
XM_017028362.2:c.8514+181C>T	XP_016883851.1:n.8514+181C>T
XM_017028363.1:c.8374C>T	XP_016883852.1:p.Gln2792Ter
XM_024452082.1:c.7612C>T	XP_024307850.1:p.Gln2538Ter
XM_024452083.1:c.6508C>T	XP_024307851.1:p.Gln2170Ter
NM_006031.6:c.8695C>T MANE Select	NP_006022.3:p.Gln2899Ter
NM_001315529.2:c.8160+181C>T	NP_001302458.1:n.8160+181C>T