Canonical Allele Identifier: CA410572446

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46431553C>A , CM000683.2:g.46431553C>A	GRCh38
NC_000021.8:g.47851467C>A , CM000683.1:g.47851467C>A	GRCh37
NC_000021.7:g.46675895C>A	NCBI36
NG_008961.1:g.112432C>A
NG_008961.2:g.112432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.908C>A
ENST00000695527.1:n.2434C>A
ENST00000695528.1:c.2122C>A	ENSP00000511990.1:p.Gln708Lys
ENST00000695529.1:n.2122C>A
ENST00000695530.1:c.908C>A
ENST00000695531.1:n.1691C>A
ENST00000695532.1:n.1691C>A
ENST00000695533.1:n.759C>A
ENST00000695534.1:n.720C>A
ENST00000695558.1:c.8122C>A	ENSP00000512015.1:p.Gln2708Lys
ENST00000703224.1:c.*7332C>A	ENSP00000515242.1:n.*7332C>A
ENST00000703226.1:n.759C>A
ENST00000359568.10:c.8089C>A MANE Select	ENSP00000352572.5:p.Gln2697Lys
ENST00000359568.9:c.8089C>A	ENSP00000352572.5:p.Gln2697Lys
ENST00000480896.5:n.8358C>A
ENST00000482575.1:n.96C>A
NM_001315529.1:c.7735C>A	NP_001302458.1:p.Gln2579Lys
NM_006031.5:c.8089C>A	NP_006022.3:p.Gln2697Lys
XM_005261124.3:c.8122C>A	XP_005261181.1:p.Gln2708Lys
XM_011529593.1:c.8200C>A	XP_011527895.1:p.Gln2734Lys
XM_011529594.1:c.8170C>A	XP_011527896.1:p.Gln2724Lys
XM_005261124.5:c.8122C>A	XP_005261181.1:p.Gln2708Lys
XM_011529594.3:c.8170C>A	XP_011527896.1:p.Gln2724Lys
XM_017028362.2:c.8089C>A	XP_016883851.1:p.Gln2697Lys
XM_017028363.1:c.7768C>A	XP_016883852.1:p.Gln2590Lys
XM_024452082.1:c.7006C>A	XP_024307850.1:p.Gln2336Lys
XM_024452083.1:c.5902C>A	XP_024307851.1:p.Gln1968Lys
NM_006031.6:c.8089C>A MANE Select	NP_006022.3:p.Gln2697Lys
NM_001315529.2:c.7735C>A	NP_001302458.1:p.Gln2579Lys