Canonical Allele Identifier: CA10079751
Gene: PCNT HGNC NCBI

Linked Data

ClinVar Variation Id: 499448
dbSNP Id: rs180775012

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46399680A>T , CM000683.2:g.46399680A>T GRCh38
NC_000021.8:g.47819594A>T , CM000683.1:g.47819594A>T GRCh37
NC_000021.7:g.46644022A>T NCBI36
NG_008961.1:g.80559A>T
NG_008961.2:g.80559A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.4708A>T ENSP00000512015.1:p.Met1570Leu
ENST00000703224.1:c.*3918A>T ENSP00000515242.1:n.*3918A>T
ENST00000359568.10:c.4675A>T MANE Select ENSP00000352572.5:p.Met1559Leu
ENST00000359568.9:c.4675A>T ENSP00000352572.5:p.Met1559Leu
ENST00000480896.5:n.4944A>T
NM_001315529.1:c.4321A>T NP_001302458.1:p.Met1441Leu
NM_006031.5:c.4675A>T NP_006022.3:p.Met1559Leu
XM_005261124.3:c.4708A>T XP_005261181.1:p.Met1570Leu
XM_011529593.1:c.4786A>T XP_011527895.1:p.Met1596Leu
XM_011529594.1:c.4756A>T XP_011527896.1:p.Met1586Leu
XM_005261124.5:c.4708A>T XP_005261181.1:p.Met1570Leu
XM_011529594.3:c.4756A>T XP_011527896.1:p.Met1586Leu
XM_017028362.2:c.4675A>T XP_016883851.1:p.Met1559Leu
XM_017028363.1:c.4354A>T XP_016883852.1:p.Met1452Leu
XM_024452082.1:c.3592A>T XP_024307850.1:p.Met1198Leu
XM_024452083.1:c.2488A>T XP_024307851.1:p.Met830Leu
NM_006031.6:c.4675A>T MANE Select NP_006022.3:p.Met1559Leu
NM_001315529.2:c.4321A>T NP_001302458.1:p.Met1441Leu