Canonical Allele Identifier: CA10081240

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46438314C>G , CM000683.2:g.46438314C>G	GRCh38
NC_000021.8:g.47858227C>G , CM000683.1:g.47858227C>G	GRCh37
NC_000021.7:g.46682655C>G	NCBI36
NG_008961.1:g.119192C>G
NG_008961.2:g.119193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1832C>G
ENST00000695527.1:n.3595C>G
ENST00000695528.1:c.3283C>G	ENSP00000511990.1:p.Leu1095Val
ENST00000695529.1:n.3046C>G
ENST00000695530.1:c.1832C>G
ENST00000695531.1:n.2852C>G
ENST00000695532.1:n.2852C>G
ENST00000695533.1:n.1920C>G
ENST00000695534.1:n.1644C>G
ENST00000695535.1:n.652C>G
ENST00000695536.1:n.557C>G
ENST00000695558.1:c.9283C>G	ENSP00000512015.1:p.Leu3095Val
ENST00000703224.1:c.*8493C>G	ENSP00000515242.1:n.*8493C>G
ENST00000703226.1:n.1920C>G
ENST00000359568.10:c.9250C>G MANE Select	ENSP00000352572.5:p.Leu3084Val
ENST00000359568.9:c.9250C>G	ENSP00000352572.5:p.Leu3084Val
ENST00000418394.1:c.192C>G
ENST00000480896.5:n.9282C>G
NM_001315529.1:c.8659C>G	NP_001302458.1:p.Leu2887Val
NM_006031.5:c.9250C>G	NP_006022.3:p.Leu3084Val
XM_005261124.3:c.9283C>G	XP_005261181.1:p.Leu3095Val
XM_011529593.1:c.9361C>G	XP_011527895.1:p.Leu3121Val
XM_011529594.1:c.9331C>G	XP_011527896.1:p.Leu3111Val
XM_005261124.5:c.9283C>G	XP_005261181.1:p.Leu3095Val
XM_011529594.3:c.9331C>G	XP_011527896.1:p.Leu3111Val
XM_017028362.2:c.9013C>G	XP_016883851.1:p.Leu3005Val
XM_017028363.1:c.8929C>G	XP_016883852.1:p.Leu2977Val
XM_024452082.1:c.8167C>G	XP_024307850.1:p.Leu2723Val
XM_024452083.1:c.7063C>G	XP_024307851.1:p.Leu2355Val
NM_006031.6:c.9250C>G MANE Select	NP_006022.3:p.Leu3084Val
NM_001315529.2:c.8659C>G	NP_001302458.1:p.Leu2887Val