Canonical Allele Identifier: CA410570429

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367066-G-C
• MyVariant Identifiers: chr21:g.47786981G>C (hg19) ; chr21:g.46367066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367066G>C , CM000683.2:g.46367066G>C	GRCh38
NC_000021.8:g.47786981G>C , CM000683.1:g.47786981G>C	GRCh37
NC_000021.7:g.46611409G>C	NCBI36
NG_008961.1:g.47946G>C
NG_008961.2:g.47945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1588G>C	ENSP00000511987.1:n.*1588G>C
ENST00000695525.1:n.3178G>C
ENST00000695558.1:c.3092G>C	ENSP00000512015.1:p.Arg1031Pro
ENST00000703224.1:c.*2335G>C	ENSP00000515242.1:n.*2335G>C
ENST00000359568.10:c.3092G>C MANE Select	ENSP00000352572.5:p.Arg1031Pro
ENST00000359568.9:c.3092G>C	ENSP00000352572.5:p.Arg1031Pro
ENST00000480896.5:n.3361G>C
NM_001315529.1:c.2738G>C	NP_001302458.1:p.Arg913Pro
NM_006031.5:c.3092G>C	NP_006022.3:p.Arg1031Pro
XM_005261124.3:c.3092G>C	XP_005261181.1:p.Arg1031Pro
XM_011529593.1:c.3173G>C	XP_011527895.1:p.Arg1058Pro
XM_011529594.1:c.3173G>C	XP_011527896.1:p.Arg1058Pro
XM_005261124.5:c.3092G>C	XP_005261181.1:p.Arg1031Pro
XM_011529594.3:c.3173G>C	XP_011527896.1:p.Arg1058Pro
XM_017028362.2:c.3092G>C	XP_016883851.1:p.Arg1031Pro
XM_017028363.1:c.2738G>C	XP_016883852.1:p.Arg913Pro
XM_024452082.1:c.1976G>C	XP_024307850.1:p.Arg659Pro
XM_024452083.1:c.872G>C	XP_024307851.1:p.Arg291Pro
NM_006031.6:c.3092G>C MANE Select	NP_006022.3:p.Arg1031Pro
NM_001315529.2:c.2738G>C	NP_001302458.1:p.Arg913Pro