Canonical Allele Identifier: CA10080150
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46412084G>A , CM000683.2:g.46412084G>A GRCh38
NC_000021.8:g.47831998G>A , CM000683.1:g.47831998G>A GRCh37
NC_000021.7:g.46656426G>A NCBI36
NG_008961.1:g.92963G>A
NG_008961.2:g.92963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695527.1:n.339+17G>A
ENST00000695528.1:c.168+17G>A ENSP00000511990.1:n.168+17G>A
ENST00000695529.1:n.168+17G>A
ENST00000695558.1:c.6027+17G>A ENSP00000512015.1:n.6027+17G>A
ENST00000703224.1:c.*5237+17G>A ENSP00000515242.1:n.*5237+17G>A
ENST00000359568.10:c.5994+17G>A MANE Select ENSP00000352572.5:n.5994+17G>A
ENST00000359568.9:c.5994+17G>A ENSP00000352572.5:n.5994+17G>A
ENST00000480896.5:n.6263+17G>A
NM_001315529.1:c.5640+17G>A NP_001302458.1:n.5640+17G>A
NM_006031.5:c.5994+17G>A NP_006022.3:n.5994+17G>A
XM_005261124.3:c.6027+17G>A XP_005261181.1:n.6027+17G>A
XM_011529593.1:c.6105+17G>A XP_011527895.1:n.6105+17G>A
XM_011529594.1:c.6075+17G>A XP_011527896.1:n.6075+17G>A
XM_005261124.5:c.6027+17G>A XP_005261181.1:n.6027+17G>A
XM_011529594.3:c.6075+17G>A XP_011527896.1:n.6075+17G>A
XM_017028362.2:c.5994+17G>A XP_016883851.1:n.5994+17G>A
XM_017028363.1:c.5673+17G>A XP_016883852.1:n.5673+17G>A
XM_024452082.1:c.4911+17G>A XP_024307850.1:n.4911+17G>A
XM_024452083.1:c.3807+17G>A XP_024307851.1:n.3807+17G>A
NM_006031.6:c.5994+17G>A MANE Select NP_006022.3:n.5994+17G>A
NM_001315529.2:c.5640+17G>A NP_001302458.1:n.5640+17G>A