Canonical Allele Identifier: CA10081016

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46432105C>T , CM000683.2:g.46432105C>T	GRCh38
NC_000021.8:g.47852019C>T , CM000683.1:g.47852019C>T	GRCh37
NC_000021.7:g.46676447C>T	NCBI36
NG_008961.1:g.112984C>T
NG_008961.2:g.112984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1333+127C>T
ENST00000695527.1:n.2986C>T
ENST00000695528.1:c.2674C>T	ENSP00000511990.1:p.Arg892Trp
ENST00000695529.1:n.2547+127C>T
ENST00000695530.1:c.1333+127C>T
ENST00000695531.1:n.2243C>T
ENST00000695532.1:n.2243C>T
ENST00000695533.1:n.1311C>T
ENST00000695534.1:n.1145+127C>T
ENST00000695558.1:c.8674C>T	ENSP00000512015.1:p.Arg2892Trp
ENST00000703224.1:c.*7884C>T	ENSP00000515242.1:n.*7884C>T
ENST00000703226.1:n.1311C>T
ENST00000359568.10:c.8641C>T MANE Select	ENSP00000352572.5:p.Arg2881Trp
ENST00000359568.9:c.8641C>T	ENSP00000352572.5:p.Arg2881Trp
ENST00000480896.5:n.8783+127C>T
NM_001315529.1:c.8160+127C>T	NP_001302458.1:n.8160+127C>T
NM_006031.5:c.8641C>T	NP_006022.3:p.Arg2881Trp
XM_005261124.3:c.8674C>T	XP_005261181.1:p.Arg2892Trp
XM_011529593.1:c.8752C>T	XP_011527895.1:p.Arg2918Trp
XM_011529594.1:c.8722C>T	XP_011527896.1:p.Arg2908Trp
XM_005261124.5:c.8674C>T	XP_005261181.1:p.Arg2892Trp
XM_011529594.3:c.8722C>T	XP_011527896.1:p.Arg2908Trp
XM_017028362.2:c.8514+127C>T	XP_016883851.1:n.8514+127C>T
XM_017028363.1:c.8320C>T	XP_016883852.1:p.Arg2774Trp
XM_024452082.1:c.7558C>T	XP_024307850.1:p.Arg2520Trp
XM_024452083.1:c.6454C>T	XP_024307851.1:p.Arg2152Trp
NM_006031.6:c.8641C>T MANE Select	NP_006022.3:p.Arg2881Trp
NM_001315529.2:c.8160+127C>T	NP_001302458.1:n.8160+127C>T