Canonical Allele Identifier: CA410570519

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47787005G>C (hg19) ; chr21:g.46367090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367090G>C , CM000683.2:g.46367090G>C	GRCh38
NC_000021.8:g.47787005G>C , CM000683.1:g.47787005G>C	GRCh37
NC_000021.7:g.46611433G>C	NCBI36
NG_008961.1:g.47970G>C
NG_008961.2:g.47969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1612G>C	ENSP00000511987.1:n.*1612G>C
ENST00000695525.1:n.3202G>C
ENST00000695558.1:c.3116G>C	ENSP00000512015.1:p.Ser1039Thr
ENST00000703224.1:c.*2359G>C	ENSP00000515242.1:n.*2359G>C
ENST00000359568.10:c.3116G>C MANE Select	ENSP00000352572.5:p.Ser1039Thr
ENST00000359568.9:c.3116G>C	ENSP00000352572.5:p.Ser1039Thr
ENST00000480896.5:n.3385G>C
NM_001315529.1:c.2762G>C	NP_001302458.1:p.Ser921Thr
NM_006031.5:c.3116G>C	NP_006022.3:p.Ser1039Thr
XM_005261124.3:c.3116G>C	XP_005261181.1:p.Ser1039Thr
XM_011529593.1:c.3197G>C	XP_011527895.1:p.Ser1066Thr
XM_011529594.1:c.3197G>C	XP_011527896.1:p.Ser1066Thr
XM_005261124.5:c.3116G>C	XP_005261181.1:p.Ser1039Thr
XM_011529594.3:c.3197G>C	XP_011527896.1:p.Ser1066Thr
XM_017028362.2:c.3116G>C	XP_016883851.1:p.Ser1039Thr
XM_017028363.1:c.2762G>C	XP_016883852.1:p.Ser921Thr
XM_024452082.1:c.2000G>C	XP_024307850.1:p.Ser667Thr
XM_024452083.1:c.896G>C	XP_024307851.1:p.Ser299Thr
NM_006031.6:c.3116G>C MANE Select	NP_006022.3:p.Ser1039Thr
NM_001315529.2:c.2762G>C	NP_001302458.1:p.Ser921Thr