Canonical Allele Identifier: CA410569917

Gene: PCNT

Linked Data

• dbSNP Id: rs2146925687
• MyVariant Identifiers: chr21:g.47786894G>A (hg19) ; chr21:g.46366979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366979G>A , CM000683.2:g.46366979G>A	GRCh38
NC_000021.8:g.47786894G>A , CM000683.1:g.47786894G>A	GRCh37
NC_000021.7:g.46611322G>A	NCBI36
NG_008961.1:g.47859G>A
NG_008961.2:g.47858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1501G>A	ENSP00000511987.1:n.*1501G>A
ENST00000695525.1:n.3091G>A
ENST00000695558.1:c.3005G>A	ENSP00000512015.1:p.Trp1002Ter
ENST00000703224.1:c.*2248G>A	ENSP00000515242.1:n.*2248G>A
ENST00000359568.10:c.3005G>A MANE Select	ENSP00000352572.5:p.Trp1002Ter
ENST00000359568.9:c.3005G>A	ENSP00000352572.5:p.Trp1002Ter
ENST00000480896.5:n.3274G>A
NM_001315529.1:c.2651G>A	NP_001302458.1:p.Trp884Ter
NM_006031.5:c.3005G>A	NP_006022.3:p.Trp1002Ter
XM_005261124.3:c.3005G>A	XP_005261181.1:p.Trp1002Ter
XM_011529593.1:c.3086G>A	XP_011527895.1:p.Trp1029Ter
XM_011529594.1:c.3086G>A	XP_011527896.1:p.Trp1029Ter
XM_005261124.5:c.3005G>A	XP_005261181.1:p.Trp1002Ter
XM_011529594.3:c.3086G>A	XP_011527896.1:p.Trp1029Ter
XM_017028362.2:c.3005G>A	XP_016883851.1:p.Trp1002Ter
XM_017028363.1:c.2651G>A	XP_016883852.1:p.Trp884Ter
XM_024452082.1:c.1889G>A	XP_024307850.1:p.Trp630Ter
XM_024452083.1:c.785G>A	XP_024307851.1:p.Trp262Ter
NM_006031.6:c.3005G>A MANE Select	NP_006022.3:p.Trp1002Ter
NM_001315529.2:c.2651G>A	NP_001302458.1:p.Trp884Ter