Canonical Allele Identifier: CA410570512

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47787004A>C (hg19) ; chr21:g.46367089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367089A>C , CM000683.2:g.46367089A>C	GRCh38
NC_000021.8:g.47787004A>C , CM000683.1:g.47787004A>C	GRCh37
NC_000021.7:g.46611432A>C	NCBI36
NG_008961.1:g.47969A>C
NG_008961.2:g.47968A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.*1611A>C	ENSP00000511987.1:n.*1611A>C
ENST00000695525.1:n.3201A>C
ENST00000695558.1:c.3115A>C	ENSP00000512015.1:p.Ser1039Arg
ENST00000703224.1:c.*2358A>C	ENSP00000515242.1:n.*2358A>C
ENST00000359568.10:c.3115A>C MANE Select	ENSP00000352572.5:p.Ser1039Arg
ENST00000359568.9:c.3115A>C	ENSP00000352572.5:p.Ser1039Arg
ENST00000480896.5:n.3384A>C
NM_001315529.1:c.2761A>C	NP_001302458.1:p.Ser921Arg
NM_006031.5:c.3115A>C	NP_006022.3:p.Ser1039Arg
XM_005261124.3:c.3115A>C	XP_005261181.1:p.Ser1039Arg
XM_011529593.1:c.3196A>C	XP_011527895.1:p.Ser1066Arg
XM_011529594.1:c.3196A>C	XP_011527896.1:p.Ser1066Arg
XM_005261124.5:c.3115A>C	XP_005261181.1:p.Ser1039Arg
XM_011529594.3:c.3196A>C	XP_011527896.1:p.Ser1066Arg
XM_017028362.2:c.3115A>C	XP_016883851.1:p.Ser1039Arg
XM_017028363.1:c.2761A>C	XP_016883852.1:p.Ser921Arg
XM_024452082.1:c.1999A>C	XP_024307850.1:p.Ser667Arg
XM_024452083.1:c.895A>C	XP_024307851.1:p.Ser299Arg
NM_006031.6:c.3115A>C MANE Select	NP_006022.3:p.Ser1039Arg
NM_001315529.2:c.2761A>C	NP_001302458.1:p.Ser921Arg