Canonical Allele Identifier: CA512734455

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786964G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367049G>C , CM000683.2:g.46367049G>C	GRCh38
NC_000021.8:g.47786964G>C , CM000683.1:g.47786964G>C	GRCh37
NC_000021.7:g.46611392G>C	NCBI36
NG_008961.1:g.47929G>C
NG_008961.2:g.47928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1571G>C	ENSP00000511987.1:n.*1571G>C
ENST00000695525.1:n.3161G>C
ENST00000695558.1:c.3075G>C	ENSP00000512015.1:p.Gly1025=
ENST00000703224.1:c.*2318G>C	ENSP00000515242.1:n.*2318G>C
ENST00000359568.10:c.3075G>C MANE Select	ENSP00000352572.5:p.Gly1025=
ENST00000359568.9:c.3075G>C	ENSP00000352572.5:p.Gly1025=
ENST00000480896.5:n.3344G>C
NM_001315529.1:c.2721G>C	NP_001302458.1:p.Gly907=
NM_006031.5:c.3075G>C	NP_006022.3:p.Gly1025=
XM_005261124.3:c.3075G>C	XP_005261181.1:p.Gly1025=
XM_011529593.1:c.3156G>C	XP_011527895.1:p.Gly1052=
XM_011529594.1:c.3156G>C	XP_011527896.1:p.Gly1052=
XM_005261124.5:c.3075G>C	XP_005261181.1:p.Gly1025=
XM_011529594.3:c.3156G>C	XP_011527896.1:p.Gly1052=
XM_017028362.2:c.3075G>C	XP_016883851.1:p.Gly1025=
XM_017028363.1:c.2721G>C	XP_016883852.1:p.Gly907=
XM_024452082.1:c.1959G>C	XP_024307850.1:p.Gly653=
XM_024452083.1:c.855G>C	XP_024307851.1:p.Gly285=
NM_006031.6:c.3075G>C MANE Select	NP_006022.3:p.Gly1025=
NM_001315529.2:c.2721G>C	NP_001302458.1:p.Gly907=