Canonical Allele Identifier: CA10080106

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411945C>G , CM000683.2:g.46411945C>G	GRCh38
NC_000021.8:g.47831859C>G , CM000683.1:g.47831859C>G	GRCh37
NC_000021.7:g.46656287C>G	NCBI36
NG_008961.1:g.92824C>G
NG_008961.2:g.92824C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.217C>G
ENST00000695528.1:c.46C>G	ENSP00000511990.1:p.His16Asp
ENST00000695529.1:n.46C>G
ENST00000695558.1:c.5905C>G	ENSP00000512015.1:p.His1969Asp
ENST00000703224.1:c.*5115C>G	ENSP00000515242.1:n.*5115C>G
ENST00000359568.10:c.5872C>G MANE Select	ENSP00000352572.5:p.His1958Asp
ENST00000359568.9:c.5872C>G	ENSP00000352572.5:p.His1958Asp
ENST00000480896.5:n.6141C>G
NM_001315529.1:c.5518C>G	NP_001302458.1:p.His1840Asp
NM_006031.5:c.5872C>G	NP_006022.3:p.His1958Asp
XM_005261124.3:c.5905C>G	XP_005261181.1:p.His1969Asp
XM_011529593.1:c.5983C>G	XP_011527895.1:p.His1995Asp
XM_011529594.1:c.5953C>G	XP_011527896.1:p.His1985Asp
XM_005261124.5:c.5905C>G	XP_005261181.1:p.His1969Asp
XM_011529594.3:c.5953C>G	XP_011527896.1:p.His1985Asp
XM_017028362.2:c.5872C>G	XP_016883851.1:p.His1958Asp
XM_017028363.1:c.5551C>G	XP_016883852.1:p.His1851Asp
XM_024452082.1:c.4789C>G	XP_024307850.1:p.His1597Asp
XM_024452083.1:c.3685C>G	XP_024307851.1:p.His1229Asp
NM_006031.6:c.5872C>G MANE Select	NP_006022.3:p.His1958Asp
NM_001315529.2:c.5518C>G	NP_001302458.1:p.His1840Asp