Canonical Allele Identifier: CA410570203

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786939A>C (hg19) ; chr21:g.46367024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367024A>C , CM000683.2:g.46367024A>C	GRCh38
NC_000021.8:g.47786939A>C , CM000683.1:g.47786939A>C	GRCh37
NC_000021.7:g.46611367A>C	NCBI36
NG_008961.1:g.47904A>C
NG_008961.2:g.47903A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1546A>C	ENSP00000511987.1:n.*1546A>C
ENST00000695525.1:n.3136A>C
ENST00000695558.1:c.3050A>C	ENSP00000512015.1:p.Glu1017Ala
ENST00000703224.1:c.*2293A>C	ENSP00000515242.1:n.*2293A>C
ENST00000359568.10:c.3050A>C MANE Select	ENSP00000352572.5:p.Glu1017Ala
ENST00000359568.9:c.3050A>C	ENSP00000352572.5:p.Glu1017Ala
ENST00000480896.5:n.3319A>C
NM_001315529.1:c.2696A>C	NP_001302458.1:p.Glu899Ala
NM_006031.5:c.3050A>C	NP_006022.3:p.Glu1017Ala
XM_005261124.3:c.3050A>C	XP_005261181.1:p.Glu1017Ala
XM_011529593.1:c.3131A>C	XP_011527895.1:p.Glu1044Ala
XM_011529594.1:c.3131A>C	XP_011527896.1:p.Glu1044Ala
XM_005261124.5:c.3050A>C	XP_005261181.1:p.Glu1017Ala
XM_011529594.3:c.3131A>C	XP_011527896.1:p.Glu1044Ala
XM_017028362.2:c.3050A>C	XP_016883851.1:p.Glu1017Ala
XM_017028363.1:c.2696A>C	XP_016883852.1:p.Glu899Ala
XM_024452082.1:c.1934A>C	XP_024307850.1:p.Glu645Ala
XM_024452083.1:c.830A>C	XP_024307851.1:p.Glu277Ala
NM_006031.6:c.3050A>C MANE Select	NP_006022.3:p.Glu1017Ala
NM_001315529.2:c.2696A>C	NP_001302458.1:p.Glu899Ala