Canonical Allele Identifier: CA410577811

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46440878C>G , CM000683.2:g.46440878C>G	GRCh38
NC_000021.8:g.47860791C>G , CM000683.1:g.47860791C>G	GRCh37
NC_000021.7:g.46685219C>G	NCBI36
NG_008961.1:g.121756C>G
NG_008961.2:g.121757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1999C>G
ENST00000695527.1:n.3762C>G
ENST00000695528.1:c.3450C>G	ENSP00000511990.1:p.Tyr1150Ter
ENST00000695529.1:n.3213C>G
ENST00000695530.1:c.1999C>G
ENST00000695531.1:n.3019C>G
ENST00000695532.1:n.3019C>G
ENST00000695533.1:n.2087C>G
ENST00000695534.1:n.1811C>G
ENST00000695535.1:n.819C>G
ENST00000695536.1:n.724C>G
ENST00000695537.1:n.480C>G
ENST00000695558.1:c.9450C>G	ENSP00000512015.1:p.Tyr3150Ter
ENST00000703224.1:c.*8660C>G	ENSP00000515242.1:n.*8660C>G
ENST00000703226.1:n.2087C>G
ENST00000359568.10:c.9417C>G MANE Select	ENSP00000352572.5:p.Tyr3139Ter
ENST00000359568.9:c.9417C>G	ENSP00000352572.5:p.Tyr3139Ter
ENST00000418394.1:c.359C>G
ENST00000480896.5:n.9449C>G
NM_001315529.1:c.8826C>G	NP_001302458.1:p.Tyr2942Ter
NM_006031.5:c.9417C>G	NP_006022.3:p.Tyr3139Ter
XM_005261124.3:c.9450C>G	XP_005261181.1:p.Tyr3150Ter
XM_011529593.1:c.9528C>G	XP_011527895.1:p.Tyr3176Ter
XM_011529594.1:c.9498C>G	XP_011527896.1:p.Tyr3166Ter
XM_005261124.5:c.9450C>G	XP_005261181.1:p.Tyr3150Ter
XM_011529594.3:c.9498C>G	XP_011527896.1:p.Tyr3166Ter
XM_017028362.2:c.9180C>G	XP_016883851.1:p.Tyr3060Ter
XM_017028363.1:c.9096C>G	XP_016883852.1:p.Tyr3032Ter
XM_024452082.1:c.8334C>G	XP_024307850.1:p.Tyr2778Ter
XM_024452083.1:c.7230C>G	XP_024307851.1:p.Tyr2410Ter
NM_006031.6:c.9417C>G MANE Select	NP_006022.3:p.Tyr3139Ter
NM_001315529.2:c.8826C>G	NP_001302458.1:p.Tyr2942Ter