Canonical Allele Identifier: CA410569697

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786844G>C (hg19) ; chr21:g.46366929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366929G>C , CM000683.2:g.46366929G>C	GRCh38
NC_000021.8:g.47786844G>C , CM000683.1:g.47786844G>C	GRCh37
NC_000021.7:g.46611272G>C	NCBI36
NG_008961.1:g.47809G>C
NG_008961.2:g.47808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1451G>C	ENSP00000511987.1:n.*1451G>C
ENST00000695525.1:n.3041G>C
ENST00000695558.1:c.2955G>C	ENSP00000512015.1:p.Glu985Asp
ENST00000703224.1:c.*2198G>C	ENSP00000515242.1:n.*2198G>C
ENST00000359568.10:c.2955G>C MANE Select	ENSP00000352572.5:p.Glu985Asp
ENST00000359568.9:c.2955G>C	ENSP00000352572.5:p.Glu985Asp
ENST00000480896.5:n.3224G>C
NM_001315529.1:c.2601G>C	NP_001302458.1:p.Glu867Asp
NM_006031.5:c.2955G>C	NP_006022.3:p.Glu985Asp
XM_005261124.3:c.2955G>C	XP_005261181.1:p.Glu985Asp
XM_011529593.1:c.3036G>C	XP_011527895.1:p.Glu1012Asp
XM_011529594.1:c.3036G>C	XP_011527896.1:p.Glu1012Asp
XM_005261124.5:c.2955G>C	XP_005261181.1:p.Glu985Asp
XM_011529594.3:c.3036G>C	XP_011527896.1:p.Glu1012Asp
XM_017028362.2:c.2955G>C	XP_016883851.1:p.Glu985Asp
XM_017028363.1:c.2601G>C	XP_016883852.1:p.Glu867Asp
XM_024452082.1:c.1839G>C	XP_024307850.1:p.Glu613Asp
XM_024452083.1:c.735G>C	XP_024307851.1:p.Glu245Asp
NM_006031.6:c.2955G>C MANE Select	NP_006022.3:p.Glu985Asp
NM_001315529.2:c.2601G>C	NP_001302458.1:p.Glu867Asp