Canonical Allele Identifier: CA426175452

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1669667
• ClinVar RCV Id: RCV002198734
• dbSNP Id: rs1472597009
• gnomAD v3: 2-55680870-G-A
• gnomAD v4: 2-55680870-G-A
• MyVariant Identifiers: chr2:g.55908005G>A (hg19) ; chr2:g.55680870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680870G>A , CM000664.2:g.55680870G>A	GRCh38
NC_000002.11:g.55908005G>A , CM000664.1:g.55908005G>A	GRCh37
NC_000002.10:g.55761509G>A	NCBI36
NG_033012.1:g.18041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.502C>T MANE Select	ENSP00000400646.2:p.Leu168=
ENST00000260604.8:c.502C>T	ENSP00000260604.4:p.Leu168=
ENST00000415374.5:c.502C>T	ENSP00000393953.1:p.Leu168=
ENST00000429805.1:c.*150C>T	ENSP00000411994.1:n.*150C>T
ENST00000447944.6:c.502C>T	ENSP00000400646.2:p.Leu168=
NM_033109.4:c.502C>T	NP_149100.2:p.Leu168=
XM_005264629.1:c.262C>T	XP_005264686.1:p.Leu88=
XM_011533142.1:c.502C>T	XP_011531444.1:p.Leu168=
XM_005264629.2:c.262C>T	XP_005264686.1:p.Leu88=
XM_017005172.1:c.262C>T	XP_016860661.1:p.Leu88=
XR_001739010.1:n.532C>T
NM_033109.5:c.502C>T MANE Select	NP_149100.2:p.Leu168=