Canonical Allele Identifier: CA10080040

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411687G>A , CM000683.2:g.46411687G>A	GRCh38
NC_000021.8:g.47831601G>A , CM000683.1:g.47831601G>A	GRCh37
NC_000021.7:g.46656029G>A	NCBI36
NG_008961.1:g.92566G>A
NG_008961.2:g.92566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.5647G>A	ENSP00000512015.1:p.Glu1883Lys
ENST00000703224.1:c.*4857G>A	ENSP00000515242.1:n.*4857G>A
ENST00000359568.10:c.5614G>A MANE Select	ENSP00000352572.5:p.Glu1872Lys
ENST00000359568.9:c.5614G>A	ENSP00000352572.5:p.Glu1872Lys
ENST00000480896.5:n.5883G>A
NM_001315529.1:c.5260G>A	NP_001302458.1:p.Glu1754Lys
NM_006031.5:c.5614G>A	NP_006022.3:p.Glu1872Lys
XM_005261124.3:c.5647G>A	XP_005261181.1:p.Glu1883Lys
XM_011529593.1:c.5725G>A	XP_011527895.1:p.Glu1909Lys
XM_011529594.1:c.5695G>A	XP_011527896.1:p.Glu1899Lys
XM_005261124.5:c.5647G>A	XP_005261181.1:p.Glu1883Lys
XM_011529594.3:c.5695G>A	XP_011527896.1:p.Glu1899Lys
XM_017028362.2:c.5614G>A	XP_016883851.1:p.Glu1872Lys
XM_017028363.1:c.5293G>A	XP_016883852.1:p.Glu1765Lys
XM_024452082.1:c.4531G>A	XP_024307850.1:p.Glu1511Lys
XM_024452083.1:c.3427G>A	XP_024307851.1:p.Glu1143Lys
NM_006031.6:c.5614G>A MANE Select	NP_006022.3:p.Glu1872Lys
NM_001315529.2:c.5260G>A	NP_001302458.1:p.Glu1754Lys