Canonical Allele Identifier: CA173016

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46401669C>T , CM000683.2:g.46401669C>T	GRCh38
NC_000021.8:g.47821583C>T , CM000683.1:g.47821583C>T	GRCh37
NC_000021.7:g.46646011C>T	NCBI36
NG_008961.1:g.82548C>T
NG_008961.2:g.82548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695558.1:c.4943C>T	ENSP00000512015.1:p.Pro1648Leu
ENST00000703224.1:c.*4153C>T	ENSP00000515242.1:n.*4153C>T
ENST00000359568.10:c.4910C>T MANE Select	ENSP00000352572.5:p.Pro1637Leu
ENST00000359568.9:c.4910C>T	ENSP00000352572.5:p.Pro1637Leu
ENST00000480896.5:n.5179C>T
NM_001315529.1:c.4556C>T	NP_001302458.1:p.Pro1519Leu
NM_006031.5:c.4910C>T	NP_006022.3:p.Pro1637Leu
XM_005261124.3:c.4943C>T	XP_005261181.1:p.Pro1648Leu
XM_011529593.1:c.5021C>T	XP_011527895.1:p.Pro1674Leu
XM_011529594.1:c.4991C>T	XP_011527896.1:p.Pro1664Leu
XM_005261124.5:c.4943C>T	XP_005261181.1:p.Pro1648Leu
XM_011529594.3:c.4991C>T	XP_011527896.1:p.Pro1664Leu
XM_017028362.2:c.4910C>T	XP_016883851.1:p.Pro1637Leu
XM_017028363.1:c.4589C>T	XP_016883852.1:p.Pro1530Leu
XM_024452082.1:c.3827C>T	XP_024307850.1:p.Pro1276Leu
XM_024452083.1:c.2723C>T	XP_024307851.1:p.Pro908Leu
NM_006031.6:c.4910C>T MANE Select	NP_006022.3:p.Pro1637Leu
NM_001315529.2:c.4556C>T	NP_001302458.1:p.Pro1519Leu