Canonical Allele Identifier: CA10078578

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46349811A>G , CM000683.2:g.46349811A>G	GRCh38
NC_000021.8:g.47769725A>G , CM000683.1:g.47769725A>G	GRCh37
NC_000021.7:g.46594153A>G	NCBI36
NG_008961.1:g.30690A>G
NG_008961.2:g.30690A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.1335A>G	ENSP00000511987.1:p.Lys445=
ENST00000695525.1:n.1421A>G
ENST00000695526.1:c.1260A>G	ENSP00000511988.1:p.Lys420=
ENST00000695558.1:c.1335A>G	ENSP00000512015.1:p.Lys445=
ENST00000703224.1:c.*578A>G	ENSP00000515242.1:n.*578A>G
ENST00000359568.10:c.1335A>G MANE Select	ENSP00000352572.5:p.Lys445=
ENST00000359568.9:c.1335A>G	ENSP00000352572.5:p.Lys445=
ENST00000466474.5:n.686A>G
ENST00000480896.5:n.1604A>G
ENST00000483844.1:n.390A>G
NM_001315529.1:c.981A>G	NP_001302458.1:p.Lys327=
NM_006031.5:c.1335A>G	NP_006022.3:p.Lys445=
XM_005261124.3:c.1335A>G	XP_005261181.1:p.Lys445=
XM_011529593.1:c.1416A>G	XP_011527895.1:p.Lys472=
XM_011529594.1:c.1416A>G	XP_011527896.1:p.Lys472=
XM_005261124.5:c.1335A>G	XP_005261181.1:p.Lys445=
XM_011529594.3:c.1416A>G	XP_011527896.1:p.Lys472=
XM_017028362.2:c.1335A>G	XP_016883851.1:p.Lys445=
XM_017028363.1:c.981A>G	XP_016883852.1:p.Lys327=
XM_024452082.1:c.219A>G	XP_024307850.1:p.Lys73=
XM_024452083.1:c.-774A>G	XP_024307851.1:n.-774A>G
NM_006031.6:c.1335A>G MANE Select	NP_006022.3:p.Lys445=
NM_001315529.2:c.981A>G	NP_001302458.1:p.Lys327=