Canonical Allele Identifier: CA10079547

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46391302C>T , CM000683.2:g.46391302C>T	GRCh38
NC_000021.8:g.47811217C>T , CM000683.1:g.47811217C>T	GRCh37
NC_000021.7:g.46635645C>T	NCBI36
NG_008961.1:g.72182C>T
NG_008961.2:g.72181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.4142C>T	ENSP00000512015.1:p.Ala1381Val
ENST00000703224.1:c.*3385C>T	ENSP00000515242.1:n.*3385C>T
ENST00000359568.10:c.4142C>T MANE Select	ENSP00000352572.5:p.Ala1381Val
ENST00000359568.9:c.4142C>T	ENSP00000352572.5:p.Ala1381Val
ENST00000480896.5:n.4411C>T
NM_001315529.1:c.3788C>T	NP_001302458.1:p.Ala1263Val
NM_006031.5:c.4142C>T	NP_006022.3:p.Ala1381Val
XM_005261124.3:c.4142C>T	XP_005261181.1:p.Ala1381Val
XM_011529593.1:c.4223C>T	XP_011527895.1:p.Ala1408Val
XM_011529594.1:c.4223C>T	XP_011527896.1:p.Ala1408Val
XM_005261124.5:c.4142C>T	XP_005261181.1:p.Ala1381Val
XM_011529594.3:c.4223C>T	XP_011527896.1:p.Ala1408Val
XM_017028362.2:c.4142C>T	XP_016883851.1:p.Ala1381Val
XM_017028363.1:c.3788C>T	XP_016883852.1:p.Ala1263Val
XM_024452082.1:c.3026C>T	XP_024307850.1:p.Ala1009Val
XM_024452083.1:c.1922C>T	XP_024307851.1:p.Ala641Val
NM_006031.6:c.4142C>T MANE Select	NP_006022.3:p.Ala1381Val
NM_001315529.2:c.3788C>T	NP_001302458.1:p.Ala1263Val