Canonical Allele Identifier: CA410569846

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786886A>T (hg19) ; chr21:g.46366971A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366971A>T , CM000683.2:g.46366971A>T	GRCh38
NC_000021.8:g.47786886A>T , CM000683.1:g.47786886A>T	GRCh37
NC_000021.7:g.46611314A>T	NCBI36
NG_008961.1:g.47851A>T
NG_008961.2:g.47850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1493A>T	ENSP00000511987.1:n.*1493A>T
ENST00000695525.1:n.3083A>T
ENST00000695558.1:c.2997A>T	ENSP00000512015.1:p.Glu999Asp
ENST00000703224.1:c.*2240A>T	ENSP00000515242.1:n.*2240A>T
ENST00000359568.10:c.2997A>T MANE Select	ENSP00000352572.5:p.Glu999Asp
ENST00000359568.9:c.2997A>T	ENSP00000352572.5:p.Glu999Asp
ENST00000480896.5:n.3266A>T
NM_001315529.1:c.2643A>T	NP_001302458.1:p.Glu881Asp
NM_006031.5:c.2997A>T	NP_006022.3:p.Glu999Asp
XM_005261124.3:c.2997A>T	XP_005261181.1:p.Glu999Asp
XM_011529593.1:c.3078A>T	XP_011527895.1:p.Glu1026Asp
XM_011529594.1:c.3078A>T	XP_011527896.1:p.Glu1026Asp
XM_005261124.5:c.2997A>T	XP_005261181.1:p.Glu999Asp
XM_011529594.3:c.3078A>T	XP_011527896.1:p.Glu1026Asp
XM_017028362.2:c.2997A>T	XP_016883851.1:p.Glu999Asp
XM_017028363.1:c.2643A>T	XP_016883852.1:p.Glu881Asp
XM_024452082.1:c.1881A>T	XP_024307850.1:p.Glu627Asp
XM_024452083.1:c.777A>T	XP_024307851.1:p.Glu259Asp
NM_006031.6:c.2997A>T MANE Select	NP_006022.3:p.Glu999Asp
NM_001315529.2:c.2643A>T	NP_001302458.1:p.Glu881Asp