Canonical Allele Identifier: CA513173726

Gene: PCNT

Linked Data

• gnomAD v4: 21-46366975-C-T
• MyVariant Identifiers: chr21:g.47786890C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366975C>T , CM000683.2:g.46366975C>T	GRCh38
NC_000021.8:g.47786890C>T , CM000683.1:g.47786890C>T	GRCh37
NC_000021.7:g.46611318C>T	NCBI36
NG_008961.1:g.47855C>T
NG_008961.2:g.47854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1497C>T	ENSP00000511987.1:n.*1497C>T
ENST00000695525.1:n.3087C>T
ENST00000695558.1:c.3001C>T	ENSP00000512015.1:p.Leu1001=
ENST00000703224.1:c.*2244C>T	ENSP00000515242.1:n.*2244C>T
ENST00000359568.10:c.3001C>T MANE Select	ENSP00000352572.5:p.Leu1001=
ENST00000359568.9:c.3001C>T	ENSP00000352572.5:p.Leu1001=
ENST00000480896.5:n.3270C>T
NM_001315529.1:c.2647C>T	NP_001302458.1:p.Leu883=
NM_006031.5:c.3001C>T	NP_006022.3:p.Leu1001=
XM_005261124.3:c.3001C>T	XP_005261181.1:p.Leu1001=
XM_011529593.1:c.3082C>T	XP_011527895.1:p.Leu1028=
XM_011529594.1:c.3082C>T	XP_011527896.1:p.Leu1028=
XM_005261124.5:c.3001C>T	XP_005261181.1:p.Leu1001=
XM_011529594.3:c.3082C>T	XP_011527896.1:p.Leu1028=
XM_017028362.2:c.3001C>T	XP_016883851.1:p.Leu1001=
XM_017028363.1:c.2647C>T	XP_016883852.1:p.Leu883=
XM_024452082.1:c.1885C>T	XP_024307850.1:p.Leu629=
XM_024452083.1:c.781C>T	XP_024307851.1:p.Leu261=
NM_006031.6:c.3001C>T MANE Select	NP_006022.3:p.Leu1001=
NM_001315529.2:c.2647C>T	NP_001302458.1:p.Leu883=