Canonical Allele Identifier: CA10079757
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46399732A>G , CM000683.2:g.46399732A>G GRCh38
NC_000021.8:g.47819646A>G , CM000683.1:g.47819646A>G GRCh37
NC_000021.7:g.46644074A>G NCBI36
NG_008961.1:g.80611A>G
NG_008961.2:g.80611A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.4760A>G ENSP00000512015.1:p.Lys1587Arg
ENST00000703224.1:c.*3970A>G ENSP00000515242.1:n.*3970A>G
ENST00000359568.10:c.4727A>G MANE Select ENSP00000352572.5:p.Lys1576Arg
ENST00000359568.9:c.4727A>G ENSP00000352572.5:p.Lys1576Arg
ENST00000480896.5:n.4996A>G
NM_001315529.1:c.4373A>G NP_001302458.1:p.Lys1458Arg
NM_006031.5:c.4727A>G NP_006022.3:p.Lys1576Arg
XM_005261124.3:c.4760A>G XP_005261181.1:p.Lys1587Arg
XM_011529593.1:c.4838A>G XP_011527895.1:p.Lys1613Arg
XM_011529594.1:c.4808A>G XP_011527896.1:p.Lys1603Arg
XM_005261124.5:c.4760A>G XP_005261181.1:p.Lys1587Arg
XM_011529594.3:c.4808A>G XP_011527896.1:p.Lys1603Arg
XM_017028362.2:c.4727A>G XP_016883851.1:p.Lys1576Arg
XM_017028363.1:c.4406A>G XP_016883852.1:p.Lys1469Arg
XM_024452082.1:c.3644A>G XP_024307850.1:p.Lys1215Arg
XM_024452083.1:c.2540A>G XP_024307851.1:p.Lys847Arg
NM_006031.6:c.4727A>G MANE Select NP_006022.3:p.Lys1576Arg
NM_001315529.2:c.4373A>G NP_001302458.1:p.Lys1458Arg