Canonical Allele Identifier: CA512734516

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367085-A-G
• MyVariant Identifiers: chr21:g.47787000A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367085A>G , CM000683.2:g.46367085A>G	GRCh38
NC_000021.8:g.47787000A>G , CM000683.1:g.47787000A>G	GRCh37
NC_000021.7:g.46611428A>G	NCBI36
NG_008961.1:g.47965A>G
NG_008961.2:g.47964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1607A>G	ENSP00000511987.1:n.*1607A>G
ENST00000695525.1:n.3197A>G
ENST00000695558.1:c.3111A>G	ENSP00000512015.1:p.Glu1037=
ENST00000703224.1:c.*2354A>G	ENSP00000515242.1:n.*2354A>G
ENST00000359568.10:c.3111A>G MANE Select	ENSP00000352572.5:p.Glu1037=
ENST00000359568.9:c.3111A>G	ENSP00000352572.5:p.Glu1037=
ENST00000480896.5:n.3380A>G
NM_001315529.1:c.2757A>G	NP_001302458.1:p.Glu919=
NM_006031.5:c.3111A>G	NP_006022.3:p.Glu1037=
XM_005261124.3:c.3111A>G	XP_005261181.1:p.Glu1037=
XM_011529593.1:c.3192A>G	XP_011527895.1:p.Glu1064=
XM_011529594.1:c.3192A>G	XP_011527896.1:p.Glu1064=
XM_005261124.5:c.3111A>G	XP_005261181.1:p.Glu1037=
XM_011529594.3:c.3192A>G	XP_011527896.1:p.Glu1064=
XM_017028362.2:c.3111A>G	XP_016883851.1:p.Glu1037=
XM_017028363.1:c.2757A>G	XP_016883852.1:p.Glu919=
XM_024452082.1:c.1995A>G	XP_024307850.1:p.Glu665=
XM_024452083.1:c.891A>G	XP_024307851.1:p.Glu297=
NM_006031.6:c.3111A>G MANE Select	NP_006022.3:p.Glu1037=
NM_001315529.2:c.2757A>G	NP_001302458.1:p.Glu919=