Canonical Allele Identifier: CA513174041

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831756A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411842A>C , CM000683.2:g.46411842A>C	GRCh38
NC_000021.8:g.47831756A>C , CM000683.1:g.47831756A>C	GRCh37
NC_000021.7:g.46656184A>C	NCBI36
NG_008961.1:g.92721A>C
NG_008961.2:g.92721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.114A>C
ENST00000695558.1:c.5802A>C	ENSP00000512015.1:p.Arg1934=
ENST00000703224.1:c.*5012A>C	ENSP00000515242.1:n.*5012A>C
ENST00000359568.10:c.5769A>C MANE Select	ENSP00000352572.5:p.Arg1923=
ENST00000359568.9:c.5769A>C	ENSP00000352572.5:p.Arg1923=
ENST00000480896.5:n.6038A>C
NM_001315529.1:c.5415A>C	NP_001302458.1:p.Arg1805=
NM_006031.5:c.5769A>C	NP_006022.3:p.Arg1923=
XM_005261124.3:c.5802A>C	XP_005261181.1:p.Arg1934=
XM_011529593.1:c.5880A>C	XP_011527895.1:p.Arg1960=
XM_011529594.1:c.5850A>C	XP_011527896.1:p.Arg1950=
XM_005261124.5:c.5802A>C	XP_005261181.1:p.Arg1934=
XM_011529594.3:c.5850A>C	XP_011527896.1:p.Arg1950=
XM_017028362.2:c.5769A>C	XP_016883851.1:p.Arg1923=
XM_017028363.1:c.5448A>C	XP_016883852.1:p.Arg1816=
XM_024452082.1:c.4686A>C	XP_024307850.1:p.Arg1562=
XM_024452083.1:c.3582A>C	XP_024307851.1:p.Arg1194=
NM_006031.6:c.5769A>C MANE Select	NP_006022.3:p.Arg1923=
NM_001315529.2:c.5415A>C	NP_001302458.1:p.Arg1805=