Canonical Allele Identifier: CA251087

Gene: PCNT

Linked Data

• ClinVar Variation Id: 159622
• ClinVar RCV Id: RCV000147152
• dbSNP Id: rs587784311
• gnomAD v4: 21-46411750-G-T
• MyVariant Identifiers: chr21:g.47831664G>T (hg19) ; chr21:g.46411750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411750G>T , CM000683.2:g.46411750G>T	GRCh38
NC_000021.8:g.47831664G>T , CM000683.1:g.47831664G>T	GRCh37
NC_000021.7:g.46656092G>T	NCBI36
NG_008961.1:g.92629G>T
NG_008961.2:g.92629G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.22G>T
ENST00000695558.1:c.5710G>T	ENSP00000512015.1:p.Ala1904Ser
ENST00000703224.1:c.*4920G>T	ENSP00000515242.1:n.*4920G>T
ENST00000359568.10:c.5677G>T MANE Select	ENSP00000352572.5:p.Ala1893Ser
ENST00000359568.9:c.5677G>T	ENSP00000352572.5:p.Ala1893Ser
ENST00000480896.5:n.5946G>T
NM_001315529.1:c.5323G>T	NP_001302458.1:p.Ala1775Ser
NM_006031.5:c.5677G>T	NP_006022.3:p.Ala1893Ser
XM_005261124.3:c.5710G>T	XP_005261181.1:p.Ala1904Ser
XM_011529593.1:c.5788G>T	XP_011527895.1:p.Ala1930Ser
XM_011529594.1:c.5758G>T	XP_011527896.1:p.Ala1920Ser
XM_005261124.5:c.5710G>T	XP_005261181.1:p.Ala1904Ser
XM_011529594.3:c.5758G>T	XP_011527896.1:p.Ala1920Ser
XM_017028362.2:c.5677G>T	XP_016883851.1:p.Ala1893Ser
XM_017028363.1:c.5356G>T	XP_016883852.1:p.Ala1786Ser
XM_024452082.1:c.4594G>T	XP_024307850.1:p.Ala1532Ser
XM_024452083.1:c.3490G>T	XP_024307851.1:p.Ala1164Ser
NM_006031.6:c.5677G>T MANE Select	NP_006022.3:p.Ala1893Ser
NM_001315529.2:c.5323G>T	NP_001302458.1:p.Ala1775Ser