Canonical Allele Identifier: CA410569777

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786876A>T (hg19) ; chr21:g.46366961A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366961A>T , CM000683.2:g.46366961A>T	GRCh38
NC_000021.8:g.47786876A>T , CM000683.1:g.47786876A>T	GRCh37
NC_000021.7:g.46611304A>T	NCBI36
NG_008961.1:g.47841A>T
NG_008961.2:g.47840A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1483A>T	ENSP00000511987.1:n.*1483A>T
ENST00000695525.1:n.3073A>T
ENST00000695558.1:c.2987A>T	ENSP00000512015.1:p.Asp996Val
ENST00000703224.1:c.*2230A>T	ENSP00000515242.1:n.*2230A>T
ENST00000359568.10:c.2987A>T MANE Select	ENSP00000352572.5:p.Asp996Val
ENST00000359568.9:c.2987A>T	ENSP00000352572.5:p.Asp996Val
ENST00000480896.5:n.3256A>T
NM_001315529.1:c.2633A>T	NP_001302458.1:p.Asp878Val
NM_006031.5:c.2987A>T	NP_006022.3:p.Asp996Val
XM_005261124.3:c.2987A>T	XP_005261181.1:p.Asp996Val
XM_011529593.1:c.3068A>T	XP_011527895.1:p.Asp1023Val
XM_011529594.1:c.3068A>T	XP_011527896.1:p.Asp1023Val
XM_005261124.5:c.2987A>T	XP_005261181.1:p.Asp996Val
XM_011529594.3:c.3068A>T	XP_011527896.1:p.Asp1023Val
XM_017028362.2:c.2987A>T	XP_016883851.1:p.Asp996Val
XM_017028363.1:c.2633A>T	XP_016883852.1:p.Asp878Val
XM_024452082.1:c.1871A>T	XP_024307850.1:p.Asp624Val
XM_024452083.1:c.767A>T	XP_024307851.1:p.Asp256Val
NM_006031.6:c.2987A>T MANE Select	NP_006022.3:p.Asp996Val
NM_001315529.2:c.2633A>T	NP_001302458.1:p.Asp878Val