Canonical Allele Identifier: CA512731763

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46353189C>G , CM000683.2:g.46353189C>G	GRCh38
NC_000021.8:g.47773103C>G , CM000683.1:g.47773103C>G	GRCh37
NC_000021.7:g.46597531C>G	NCBI36
NG_008961.1:g.34068C>G
NG_008961.2:g.34068C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006031.6:c.1542C>G MANE Select	NP_006022.3:p.Ser514=
ENST00000359568.10:c.1542C>G MANE Select	ENSP00000352572.5:p.Ser514=
NM_001315529.1:c.1188C>G	NP_001302458.1:p.Ser396=
NM_001315529.2:c.1188C>G	NP_001302458.1:p.Ser396=
NM_006031.5:c.1542C>G	NP_006022.3:p.Ser514=
ENST00000359568.9:c.1542C>G	ENSP00000352572.5:p.Ser514=
ENST00000466474.5:n.781C>G
ENST00000466474.6:c.*38C>G	ENSP00000511987.1:n.*38C>G
ENST00000480896.5:n.1811C>G
ENST00000483844.1:n.597C>G
ENST00000695525.1:n.1628C>G
ENST00000695526.1:c.1467C>G	ENSP00000511988.1:p.Ser489=
ENST00000695558.1:c.1542C>G	ENSP00000512015.1:p.Ser514=
ENST00000703224.1:c.*785C>G	ENSP00000515242.1:n.*785C>G
XM_005261124.3:c.1542C>G	XP_005261181.1:p.Ser514=
XM_005261124.5:c.1542C>G	XP_005261181.1:p.Ser514=
XM_011529593.1:c.1623C>G	XP_011527895.1:p.Ser541=
XM_011529594.1:c.1623C>G	XP_011527896.1:p.Ser541=
XM_011529594.3:c.1623C>G	XP_011527896.1:p.Ser541=
XM_017028362.2:c.1542C>G	XP_016883851.1:p.Ser514=
XM_017028363.1:c.1188C>G	XP_016883852.1:p.Ser396=
XM_024452082.1:c.426C>G	XP_024307850.1:p.Ser142=
XM_024452083.1:c.-679C>G	XP_024307851.1:n.-679C>G