Canonical Allele Identifier: CA410574610

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46388741G>C , CM000683.2:g.46388741G>C	GRCh38
NC_000021.8:g.47808656G>C , CM000683.1:g.47808656G>C	GRCh37
NC_000021.7:g.46633084G>C	NCBI36
NG_008961.1:g.69621G>C
NG_008961.2:g.69620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1961-1G>C	ENSP00000511987.1:n.*1961-1G>C
ENST00000695525.1:n.3551-1G>C
ENST00000695558.1:c.3465-1G>C	ENSP00000512015.1:n.3465-1G>C
ENST00000703224.1:c.*2708-1G>C	ENSP00000515242.1:n.*2708-1G>C
ENST00000359568.10:c.3465-1G>C MANE Select	ENSP00000352572.5:n.3465-1G>C
ENST00000359568.9:c.3465-1G>C	ENSP00000352572.5:n.3465-1G>C
ENST00000480896.5:n.3734-1G>C
NM_001315529.1:c.3111-1G>C	NP_001302458.1:n.3111-1G>C
NM_006031.5:c.3465-1G>C	NP_006022.3:n.3465-1G>C
XM_005261124.3:c.3465-1G>C	XP_005261181.1:n.3465-1G>C
XM_011529593.1:c.3546-1G>C	XP_011527895.1:n.3546-1G>C
XM_011529594.1:c.3546-1G>C	XP_011527896.1:n.3546-1G>C
XM_005261124.5:c.3465-1G>C	XP_005261181.1:n.3465-1G>C
XM_011529594.3:c.3546-1G>C	XP_011527896.1:n.3546-1G>C
XM_017028362.2:c.3465-1G>C	XP_016883851.1:n.3465-1G>C
XM_017028363.1:c.3111-1G>C	XP_016883852.1:n.3111-1G>C
XM_024452082.1:c.2349-1G>C	XP_024307850.1:n.2349-1G>C
XM_024452083.1:c.1245-1G>C	XP_024307851.1:n.1245-1G>C
NM_006031.6:c.3465-1G>C MANE Select	NP_006022.3:n.3465-1G>C
NM_001315529.2:c.3111-1G>C	NP_001302458.1:n.3111-1G>C