Canonical Allele Identifier: CA2739267756

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46349668T>C , CM000683.2:g.46349668T>C	GRCh38
NC_000021.8:g.47769582T>C , CM000683.1:g.47769582T>C	GRCh37
NC_000021.7:g.46594010T>C	NCBI36
NG_008961.1:g.30547T>C
NG_008961.2:g.30547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006031.6:c.1208-16T>C MANE Select	NP_006022.3:n.1208-16T>C
ENST00000359568.10:c.1208-16T>C MANE Select	ENSP00000352572.5:n.1208-16T>C
NM_001315529.1:c.854-16T>C	NP_001302458.1:n.854-16T>C
NM_001315529.2:c.854-16T>C	NP_001302458.1:n.854-16T>C
NM_006031.5:c.1208-16T>C	NP_006022.3:n.1208-16T>C
ENST00000359568.9:c.1208-16T>C	ENSP00000352572.5:n.1208-16T>C
ENST00000466474.5:n.559-16T>C
ENST00000466474.6:c.1208-16T>C	ENSP00000511987.1:n.1208-16T>C
ENST00000480896.5:n.1477-16T>C
ENST00000483844.1:n.263-16T>C
ENST00000490468.5:n.1299-16T>C
ENST00000695525.1:n.1294-16T>C
ENST00000695526.1:c.1133-16T>C	ENSP00000511988.1:n.1133-16T>C
ENST00000695558.1:c.1208-16T>C	ENSP00000512015.1:n.1208-16T>C
ENST00000703224.1:c.*451-16T>C	ENSP00000515242.1:n.*451-16T>C
XM_005261124.3:c.1208-16T>C	XP_005261181.1:n.1208-16T>C
XM_005261124.5:c.1208-16T>C	XP_005261181.1:n.1208-16T>C
XM_011529593.1:c.1289-16T>C	XP_011527895.1:n.1289-16T>C
XM_011529594.1:c.1289-16T>C	XP_011527896.1:n.1289-16T>C
XM_011529594.3:c.1289-16T>C	XP_011527896.1:n.1289-16T>C
XM_017028362.2:c.1208-16T>C	XP_016883851.1:n.1208-16T>C
XM_017028363.1:c.854-16T>C	XP_016883852.1:n.854-16T>C
XM_024452082.1:c.92-16T>C	XP_024307850.1:n.92-16T>C
XM_024452083.1:c.-901-16T>C	XP_024307851.1:n.-901-16T>C