Canonical Allele Identifier: CA410555899

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831662A>C (hg19) ; chr21:g.46411748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411748A>C , CM000683.2:g.46411748A>C	GRCh38
NC_000021.8:g.47831662A>C , CM000683.1:g.47831662A>C	GRCh37
NC_000021.7:g.46656090A>C	NCBI36
NG_008961.1:g.92627A>C
NG_008961.2:g.92627A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.20A>C
ENST00000695558.1:c.5708A>C	ENSP00000512015.1:p.Glu1903Ala
ENST00000703224.1:c.*4918A>C	ENSP00000515242.1:n.*4918A>C
ENST00000359568.10:c.5675A>C MANE Select	ENSP00000352572.5:p.Glu1892Ala
ENST00000359568.9:c.5675A>C	ENSP00000352572.5:p.Glu1892Ala
ENST00000480896.5:n.5944A>C
NM_001315529.1:c.5321A>C	NP_001302458.1:p.Glu1774Ala
NM_006031.5:c.5675A>C	NP_006022.3:p.Glu1892Ala
XM_005261124.3:c.5708A>C	XP_005261181.1:p.Glu1903Ala
XM_011529593.1:c.5786A>C	XP_011527895.1:p.Glu1929Ala
XM_011529594.1:c.5756A>C	XP_011527896.1:p.Glu1919Ala
XM_005261124.5:c.5708A>C	XP_005261181.1:p.Glu1903Ala
XM_011529594.3:c.5756A>C	XP_011527896.1:p.Glu1919Ala
XM_017028362.2:c.5675A>C	XP_016883851.1:p.Glu1892Ala
XM_017028363.1:c.5354A>C	XP_016883852.1:p.Glu1785Ala
XM_024452082.1:c.4592A>C	XP_024307850.1:p.Glu1531Ala
XM_024452083.1:c.3488A>C	XP_024307851.1:p.Glu1163Ala
NM_006031.6:c.5675A>C MANE Select	NP_006022.3:p.Glu1892Ala
NM_001315529.2:c.5321A>C	NP_001302458.1:p.Glu1774Ala