Canonical Allele Identifier: CA209679

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46412027C>T , CM000683.2:g.46412027C>T	GRCh38
NC_000021.8:g.47831941C>T , CM000683.1:g.47831941C>T	GRCh37
NC_000021.7:g.46656369C>T	NCBI36
NG_008961.1:g.92906C>T
NG_008961.2:g.92906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.299C>T
ENST00000695528.1:c.128C>T	ENSP00000511990.1:p.Ser43Phe
ENST00000695529.1:n.128C>T
ENST00000695558.1:c.5987C>T	ENSP00000512015.1:p.Ser1996Phe
ENST00000703224.1:c.*5197C>T	ENSP00000515242.1:n.*5197C>T
ENST00000359568.10:c.5954C>T MANE Select	ENSP00000352572.5:p.Ser1985Phe
ENST00000359568.9:c.5954C>T	ENSP00000352572.5:p.Ser1985Phe
ENST00000480896.5:n.6223C>T
NM_001315529.1:c.5600C>T	NP_001302458.1:p.Ser1867Phe
NM_006031.5:c.5954C>T	NP_006022.3:p.Ser1985Phe
XM_005261124.3:c.5987C>T	XP_005261181.1:p.Ser1996Phe
XM_011529593.1:c.6065C>T	XP_011527895.1:p.Ser2022Phe
XM_011529594.1:c.6035C>T	XP_011527896.1:p.Ser2012Phe
XM_005261124.5:c.5987C>T	XP_005261181.1:p.Ser1996Phe
XM_011529594.3:c.6035C>T	XP_011527896.1:p.Ser2012Phe
XM_017028362.2:c.5954C>T	XP_016883851.1:p.Ser1985Phe
XM_017028363.1:c.5633C>T	XP_016883852.1:p.Ser1878Phe
XM_024452082.1:c.4871C>T	XP_024307850.1:p.Ser1624Phe
XM_024452083.1:c.3767C>T	XP_024307851.1:p.Ser1256Phe
NM_006031.6:c.5954C>T MANE Select	NP_006022.3:p.Ser1985Phe
NM_001315529.2:c.5600C>T	NP_001302458.1:p.Ser1867Phe