Canonical Allele Identifier: CA513173749

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2866849
• ClinVar RCV Id: RCV003700429
• MyVariant Identifiers: chr21:g.47786910T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366995T>C , CM000683.2:g.46366995T>C	GRCh38
NC_000021.8:g.47786910T>C , CM000683.1:g.47786910T>C	GRCh37
NC_000021.7:g.46611338T>C	NCBI36
NG_008961.1:g.47875T>C
NG_008961.2:g.47874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1517T>C	ENSP00000511987.1:n.*1517T>C
ENST00000695525.1:n.3107T>C
ENST00000695558.1:c.3021T>C	ENSP00000512015.1:p.Leu1007=
ENST00000703224.1:c.*2264T>C	ENSP00000515242.1:n.*2264T>C
ENST00000359568.10:c.3021T>C MANE Select	ENSP00000352572.5:p.Leu1007=
ENST00000359568.9:c.3021T>C	ENSP00000352572.5:p.Leu1007=
ENST00000480896.5:n.3290T>C
NM_001315529.1:c.2667T>C	NP_001302458.1:p.Leu889=
NM_006031.5:c.3021T>C	NP_006022.3:p.Leu1007=
XM_005261124.3:c.3021T>C	XP_005261181.1:p.Leu1007=
XM_011529593.1:c.3102T>C	XP_011527895.1:p.Leu1034=
XM_011529594.1:c.3102T>C	XP_011527896.1:p.Leu1034=
XM_005261124.5:c.3021T>C	XP_005261181.1:p.Leu1007=
XM_011529594.3:c.3102T>C	XP_011527896.1:p.Leu1034=
XM_017028362.2:c.3021T>C	XP_016883851.1:p.Leu1007=
XM_017028363.1:c.2667T>C	XP_016883852.1:p.Leu889=
XM_024452082.1:c.1905T>C	XP_024307850.1:p.Leu635=
XM_024452083.1:c.801T>C	XP_024307851.1:p.Leu267=
NM_006031.6:c.3021T>C MANE Select	NP_006022.3:p.Leu1007=
NM_001315529.2:c.2667T>C	NP_001302458.1:p.Leu889=