Canonical Allele Identifier: CA172998
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46389206G>A , CM000683.2:g.46389206G>A GRCh38
NC_000021.8:g.47809121G>A , CM000683.1:g.47809121G>A GRCh37
NC_000021.7:g.46633549G>A NCBI36
NG_008961.1:g.70086G>A
NG_008961.2:g.70085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*2111G>A ENSP00000511987.1:n.*2111G>A
ENST00000695525.1:n.3701G>A
ENST00000695558.1:c.3615G>A ENSP00000512015.1:p.Ala1205=
ENST00000703224.1:c.*2858G>A ENSP00000515242.1:n.*2858G>A
ENST00000359568.10:c.3615G>A MANE Select ENSP00000352572.5:p.Ala1205=
ENST00000359568.9:c.3615G>A ENSP00000352572.5:p.Ala1205=
ENST00000480896.5:n.3884G>A
NM_001315529.1:c.3261G>A NP_001302458.1:p.Ala1087=
NM_006031.5:c.3615G>A NP_006022.3:p.Ala1205=
XM_005261124.3:c.3615G>A XP_005261181.1:p.Ala1205=
XM_011529593.1:c.3696G>A XP_011527895.1:p.Ala1232=
XM_011529594.1:c.3696G>A XP_011527896.1:p.Ala1232=
XM_005261124.5:c.3615G>A XP_005261181.1:p.Ala1205=
XM_011529594.3:c.3696G>A XP_011527896.1:p.Ala1232=
XM_017028362.2:c.3615G>A XP_016883851.1:p.Ala1205=
XM_017028363.1:c.3261G>A XP_016883852.1:p.Ala1087=
XM_024452082.1:c.2499G>A XP_024307850.1:p.Ala833=
XM_024452083.1:c.1395G>A XP_024307851.1:p.Ala465=
NM_006031.6:c.3615G>A MANE Select NP_006022.3:p.Ala1205=
NM_001315529.2:c.3261G>A NP_001302458.1:p.Ala1087=