Canonical Allele Identifier: CA47651786

Gene: PNPT1

Linked Data

• dbSNP Id: rs776851670
• gnomAD v3: 2-55647229-G-T
• gnomAD v4: 2-55647229-G-T
• MyVariant Identifiers: chr2:g.55874364G>T (hg19) ; chr2:g.55647229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647229G>T , CM000664.2:g.55647229G>T	GRCh38
NC_000002.11:g.55874364G>T , CM000664.1:g.55874364G>T	GRCh37
NC_000002.10:g.55727868G>T	NCBI36
NG_033012.1:g.51682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1602+118C>A MANE Select	ENSP00000400646.2:n.1602+118C>A
ENST00000260604.8:c.*1157+118C>A	ENSP00000260604.4:n.*1157+118C>A
ENST00000415374.5:c.1602+118C>A	ENSP00000393953.1:n.1602+118C>A
ENST00000447944.6:c.1602+118C>A	ENSP00000400646.2:n.1602+118C>A
ENST00000481066.1:n.36+118C>A
NM_033109.4:c.1602+118C>A	NP_149100.2:n.1602+118C>A
XM_005264629.1:c.1362+118C>A	XP_005264686.1:n.1362+118C>A
XM_005264629.2:c.1362+118C>A	XP_005264686.1:n.1362+118C>A
XM_017005172.1:c.1362+118C>A	XP_016860661.1:n.1362+118C>A
XR_001739010.1:n.1679+118C>A
NM_033109.5:c.1602+118C>A MANE Select	NP_149100.2:n.1602+118C>A