Canonical Allele Identifier: CA251076

Gene: PCNT

Linked Data

• ClinVar Variation Id: 159615
• ClinVar RCV Id: RCV000147141
• dbSNP Id: rs587784308
• MyVariant Identifiers: chr21:g.47822302G>T (hg19) ; chr21:g.46402388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46402388G>T , CM000683.2:g.46402388G>T	GRCh38
NC_000021.8:g.47822302G>T , CM000683.1:g.47822302G>T	GRCh37
NC_000021.7:g.46646730G>T	NCBI36
NG_008961.1:g.83267G>T
NG_008961.2:g.83267G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695558.1:c.5053G>T	ENSP00000512015.1:p.Glu1685Ter
ENST00000703224.1:c.*4263G>T	ENSP00000515242.1:n.*4263G>T
ENST00000359568.10:c.5020G>T MANE Select	ENSP00000352572.5:p.Glu1674Ter
ENST00000359568.9:c.5020G>T	ENSP00000352572.5:p.Glu1674Ter
ENST00000480896.5:n.5289G>T
NM_001315529.1:c.4666G>T	NP_001302458.1:p.Glu1556Ter
NM_006031.5:c.5020G>T	NP_006022.3:p.Glu1674Ter
XM_005261124.3:c.5053G>T	XP_005261181.1:p.Glu1685Ter
XM_011529593.1:c.5131G>T	XP_011527895.1:p.Glu1711Ter
XM_011529594.1:c.5101G>T	XP_011527896.1:p.Glu1701Ter
XM_005261124.5:c.5053G>T	XP_005261181.1:p.Glu1685Ter
XM_011529594.3:c.5101G>T	XP_011527896.1:p.Glu1701Ter
XM_017028362.2:c.5020G>T	XP_016883851.1:p.Glu1674Ter
XM_017028363.1:c.4699G>T	XP_016883852.1:p.Glu1567Ter
XM_024452082.1:c.3937G>T	XP_024307850.1:p.Glu1313Ter
XM_024452083.1:c.2833G>T	XP_024307851.1:p.Glu945Ter
NM_006031.6:c.5020G>T MANE Select	NP_006022.3:p.Glu1674Ter
NM_001315529.2:c.4666G>T	NP_001302458.1:p.Glu1556Ter