Canonical Allele Identifier: CA10079152
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46367004G>A , CM000683.2:g.46367004G>A GRCh38
NC_000021.8:g.47786919G>A , CM000683.1:g.47786919G>A GRCh37
NC_000021.7:g.46611347G>A NCBI36
NG_008961.1:g.47884G>A
NG_008961.2:g.47883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1526G>A ENSP00000511987.1:n.*1526G>A
ENST00000695525.1:n.3116G>A
ENST00000695558.1:c.3030G>A ENSP00000512015.1:p.Thr1010=
ENST00000703224.1:c.*2273G>A ENSP00000515242.1:n.*2273G>A
ENST00000359568.10:c.3030G>A MANE Select ENSP00000352572.5:p.Thr1010=
ENST00000359568.9:c.3030G>A ENSP00000352572.5:p.Thr1010=
ENST00000480896.5:n.3299G>A
NM_001315529.1:c.2676G>A NP_001302458.1:p.Thr892=
NM_006031.5:c.3030G>A NP_006022.3:p.Thr1010=
XM_005261124.3:c.3030G>A XP_005261181.1:p.Thr1010=
XM_011529593.1:c.3111G>A XP_011527895.1:p.Thr1037=
XM_011529594.1:c.3111G>A XP_011527896.1:p.Thr1037=
XM_005261124.5:c.3030G>A XP_005261181.1:p.Thr1010=
XM_011529594.3:c.3111G>A XP_011527896.1:p.Thr1037=
XM_017028362.2:c.3030G>A XP_016883851.1:p.Thr1010=
XM_017028363.1:c.2676G>A XP_016883852.1:p.Thr892=
XM_024452082.1:c.1914G>A XP_024307850.1:p.Thr638=
XM_024452083.1:c.810G>A XP_024307851.1:p.Thr270=
NM_006031.6:c.3030G>A MANE Select NP_006022.3:p.Thr1010=
NM_001315529.2:c.2676G>A NP_001302458.1:p.Thr892=