Canonical Allele Identifier: CA410555821

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831656A>G (hg19) ; chr21:g.46411742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411742A>G , CM000683.2:g.46411742A>G	GRCh38
NC_000021.8:g.47831656A>G , CM000683.1:g.47831656A>G	GRCh37
NC_000021.7:g.46656084A>G	NCBI36
NG_008961.1:g.92621A>G
NG_008961.2:g.92621A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.14A>G
ENST00000695558.1:c.5702A>G	ENSP00000512015.1:p.Glu1901Gly
ENST00000703224.1:c.*4912A>G	ENSP00000515242.1:n.*4912A>G
ENST00000359568.10:c.5669A>G MANE Select	ENSP00000352572.5:p.Glu1890Gly
ENST00000359568.9:c.5669A>G	ENSP00000352572.5:p.Glu1890Gly
ENST00000480896.5:n.5938A>G
NM_001315529.1:c.5315A>G	NP_001302458.1:p.Glu1772Gly
NM_006031.5:c.5669A>G	NP_006022.3:p.Glu1890Gly
XM_005261124.3:c.5702A>G	XP_005261181.1:p.Glu1901Gly
XM_011529593.1:c.5780A>G	XP_011527895.1:p.Glu1927Gly
XM_011529594.1:c.5750A>G	XP_011527896.1:p.Glu1917Gly
XM_005261124.5:c.5702A>G	XP_005261181.1:p.Glu1901Gly
XM_011529594.3:c.5750A>G	XP_011527896.1:p.Glu1917Gly
XM_017028362.2:c.5669A>G	XP_016883851.1:p.Glu1890Gly
XM_017028363.1:c.5348A>G	XP_016883852.1:p.Glu1783Gly
XM_024452082.1:c.4586A>G	XP_024307850.1:p.Glu1529Gly
XM_024452083.1:c.3482A>G	XP_024307851.1:p.Glu1161Gly
NM_006031.6:c.5669A>G MANE Select	NP_006022.3:p.Glu1890Gly
NM_001315529.2:c.5315A>G	NP_001302458.1:p.Glu1772Gly