Canonical Allele Identifier: CA10078471

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46347459G>C , CM000683.2:g.46347459G>C	GRCh38
NC_000021.8:g.47767373G>C , CM000683.1:g.47767373G>C	GRCh37
NC_000021.7:g.46591801G>C	NCBI36
NG_008961.1:g.28338G>C
NG_008961.2:g.28338G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.979G>C	ENSP00000511987.1:p.Glu327Gln
ENST00000695525.1:n.1065G>C
ENST00000695526.1:c.904G>C	ENSP00000511988.1:p.Glu302Gln
ENST00000695558.1:c.979G>C	ENSP00000512015.1:p.Glu327Gln
ENST00000703224.1:c.*222G>C	ENSP00000515242.1:n.*222G>C
ENST00000359568.10:c.979G>C MANE Select	ENSP00000352572.5:p.Glu327Gln
ENST00000359568.9:c.979G>C	ENSP00000352572.5:p.Glu327Gln
ENST00000466474.5:n.330G>C
ENST00000480896.5:n.1248G>C
ENST00000490468.5:n.1070G>C
NM_001315529.1:c.625G>C	NP_001302458.1:p.Glu209Gln
NM_006031.5:c.979G>C	NP_006022.3:p.Glu327Gln
XM_005261124.3:c.979G>C	XP_005261181.1:p.Glu327Gln
XM_011529593.1:c.1060G>C	XP_011527895.1:p.Glu354Gln
XM_011529594.1:c.1060G>C	XP_011527896.1:p.Glu354Gln
XM_005261124.5:c.979G>C	XP_005261181.1:p.Glu327Gln
XM_011529594.3:c.1060G>C	XP_011527896.1:p.Glu354Gln
XM_017028362.2:c.979G>C	XP_016883851.1:p.Glu327Gln
XM_017028363.1:c.625G>C	XP_016883852.1:p.Glu209Gln
XM_024452083.1:c.-1130G>C	XP_024307851.1:n.-1130G>C
NM_006031.6:c.979G>C MANE Select	NP_006022.3:p.Glu327Gln
NM_001315529.2:c.625G>C	NP_001302458.1:p.Glu209Gln