Canonical Allele Identifier: CA513173753

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786913C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366998C>T , CM000683.2:g.46366998C>T	GRCh38
NC_000021.8:g.47786913C>T , CM000683.1:g.47786913C>T	GRCh37
NC_000021.7:g.46611341C>T	NCBI36
NG_008961.1:g.47878C>T
NG_008961.2:g.47877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1520C>T	ENSP00000511987.1:n.*1520C>T
ENST00000695525.1:n.3110C>T
ENST00000695558.1:c.3024C>T	ENSP00000512015.1:p.His1008=
ENST00000703224.1:c.*2267C>T	ENSP00000515242.1:n.*2267C>T
ENST00000359568.10:c.3024C>T MANE Select	ENSP00000352572.5:p.His1008=
ENST00000359568.9:c.3024C>T	ENSP00000352572.5:p.His1008=
ENST00000480896.5:n.3293C>T
NM_001315529.1:c.2670C>T	NP_001302458.1:p.His890=
NM_006031.5:c.3024C>T	NP_006022.3:p.His1008=
XM_005261124.3:c.3024C>T	XP_005261181.1:p.His1008=
XM_011529593.1:c.3105C>T	XP_011527895.1:p.His1035=
XM_011529594.1:c.3105C>T	XP_011527896.1:p.His1035=
XM_005261124.5:c.3024C>T	XP_005261181.1:p.His1008=
XM_011529594.3:c.3105C>T	XP_011527896.1:p.His1035=
XM_017028362.2:c.3024C>T	XP_016883851.1:p.His1008=
XM_017028363.1:c.2670C>T	XP_016883852.1:p.His890=
XM_024452082.1:c.1908C>T	XP_024307850.1:p.His636=
XM_024452083.1:c.804C>T	XP_024307851.1:p.His268=
NM_006031.6:c.3024C>T MANE Select	NP_006022.3:p.His1008=
NM_001315529.2:c.2670C>T	NP_001302458.1:p.His890=