Canonical Allele Identifier: CA410569739

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786863C>A (hg19) ; chr21:g.46366948C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366948C>A , CM000683.2:g.46366948C>A	GRCh38
NC_000021.8:g.47786863C>A , CM000683.1:g.47786863C>A	GRCh37
NC_000021.7:g.46611291C>A	NCBI36
NG_008961.1:g.47828C>A
NG_008961.2:g.47827C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1470C>A	ENSP00000511987.1:n.*1470C>A
ENST00000695525.1:n.3060C>A
ENST00000695558.1:c.2974C>A	ENSP00000512015.1:p.Leu992Ile
ENST00000703224.1:c.*2217C>A	ENSP00000515242.1:n.*2217C>A
ENST00000359568.10:c.2974C>A MANE Select	ENSP00000352572.5:p.Leu992Ile
ENST00000359568.9:c.2974C>A	ENSP00000352572.5:p.Leu992Ile
ENST00000480896.5:n.3243C>A
NM_001315529.1:c.2620C>A	NP_001302458.1:p.Leu874Ile
NM_006031.5:c.2974C>A	NP_006022.3:p.Leu992Ile
XM_005261124.3:c.2974C>A	XP_005261181.1:p.Leu992Ile
XM_011529593.1:c.3055C>A	XP_011527895.1:p.Leu1019Ile
XM_011529594.1:c.3055C>A	XP_011527896.1:p.Leu1019Ile
XM_005261124.5:c.2974C>A	XP_005261181.1:p.Leu992Ile
XM_011529594.3:c.3055C>A	XP_011527896.1:p.Leu1019Ile
XM_017028362.2:c.2974C>A	XP_016883851.1:p.Leu992Ile
XM_017028363.1:c.2620C>A	XP_016883852.1:p.Leu874Ile
XM_024452082.1:c.1858C>A	XP_024307850.1:p.Leu620Ile
XM_024452083.1:c.754C>A	XP_024307851.1:p.Leu252Ile
NM_006031.6:c.2974C>A MANE Select	NP_006022.3:p.Leu992Ile
NM_001315529.2:c.2620C>A	NP_001302458.1:p.Leu874Ile