Canonical Allele Identifier: CA173082

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46422104G>A , CM000683.2:g.46422104G>A	GRCh38
NC_000021.8:g.47842018G>A , CM000683.1:g.47842018G>A	GRCh37
NC_000021.7:g.46666446G>A	NCBI36
NG_008961.1:g.102983G>A
NG_008961.2:g.102983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.1504G>A
ENST00000695528.1:c.1333G>A	ENSP00000511990.1:p.Val445Met
ENST00000695529.1:n.1333G>A
ENST00000695558.1:c.7192G>A	ENSP00000512015.1:p.Val2398Met
ENST00000703224.1:c.*6402G>A	ENSP00000515242.1:n.*6402G>A
ENST00000359568.10:c.7159G>A MANE Select	ENSP00000352572.5:p.Val2387Met
ENST00000359568.9:c.7159G>A	ENSP00000352572.5:p.Val2387Met
ENST00000480896.5:n.7428G>A
NM_001315529.1:c.6805G>A	NP_001302458.1:p.Val2269Met
NM_006031.5:c.7159G>A	NP_006022.3:p.Val2387Met
XM_005261124.3:c.7192G>A	XP_005261181.1:p.Val2398Met
XM_011529593.1:c.7270G>A	XP_011527895.1:p.Val2424Met
XM_011529594.1:c.7240G>A	XP_011527896.1:p.Val2414Met
XM_005261124.5:c.7192G>A	XP_005261181.1:p.Val2398Met
XM_011529594.3:c.7240G>A	XP_011527896.1:p.Val2414Met
XM_017028362.2:c.7159G>A	XP_016883851.1:p.Val2387Met
XM_017028363.1:c.6838G>A	XP_016883852.1:p.Val2280Met
XM_024452082.1:c.6076G>A	XP_024307850.1:p.Val2026Met
XM_024452083.1:c.4972G>A	XP_024307851.1:p.Val1658Met
NM_006031.6:c.7159G>A MANE Select	NP_006022.3:p.Val2387Met
NM_001315529.2:c.6805G>A	NP_001302458.1:p.Val2269Met