Canonical Allele Identifier: CA173057

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46416534A>G , CM000683.2:g.46416534A>G	GRCh38
NC_000021.8:g.47836448A>G , CM000683.1:g.47836448A>G	GRCh37
NC_000021.7:g.46660876A>G	NCBI36
NG_008961.1:g.97413A>G
NG_008961.2:g.97413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.961A>G
ENST00000695528.1:c.790A>G	ENSP00000511990.1:p.Thr264Ala
ENST00000695529.1:n.790A>G
ENST00000695558.1:c.6649A>G	ENSP00000512015.1:p.Thr2217Ala
ENST00000703224.1:c.*5859A>G	ENSP00000515242.1:n.*5859A>G
ENST00000359568.10:c.6616A>G MANE Select	ENSP00000352572.5:p.Thr2206Ala
ENST00000359568.9:c.6616A>G	ENSP00000352572.5:p.Thr2206Ala
ENST00000480896.5:n.6885A>G
NM_001315529.1:c.6262A>G	NP_001302458.1:p.Thr2088Ala
NM_006031.5:c.6616A>G	NP_006022.3:p.Thr2206Ala
XM_005261124.3:c.6649A>G	XP_005261181.1:p.Thr2217Ala
XM_011529593.1:c.6727A>G	XP_011527895.1:p.Thr2243Ala
XM_011529594.1:c.6697A>G	XP_011527896.1:p.Thr2233Ala
XM_005261124.5:c.6649A>G	XP_005261181.1:p.Thr2217Ala
XM_011529594.3:c.6697A>G	XP_011527896.1:p.Thr2233Ala
XM_017028362.2:c.6616A>G	XP_016883851.1:p.Thr2206Ala
XM_017028363.1:c.6295A>G	XP_016883852.1:p.Thr2099Ala
XM_024452082.1:c.5533A>G	XP_024307850.1:p.Thr1845Ala
XM_024452083.1:c.4429A>G	XP_024307851.1:p.Thr1477Ala
NM_006031.6:c.6616A>G MANE Select	NP_006022.3:p.Thr2206Ala
NM_001315529.2:c.6262A>G	NP_001302458.1:p.Thr2088Ala