Canonical Allele Identifier: CA2580067480

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 2127993
• ClinVar RCV Id: RCV003036118

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680772G>C , CM000664.2:g.55680772G>C	GRCh38
NC_000002.11:g.55907907G>C , CM000664.1:g.55907907G>C	GRCh37
NC_000002.10:g.55761411G>C	NCBI36
NG_033012.1:g.18139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.518-13C>G MANE Select	ENSP00000400646.2:n.518-13C>G
ENST00000260604.8:c.*60C>G	ENSP00000260604.4:n.*60C>G
ENST00000415374.5:c.518-13C>G	ENSP00000393953.1:n.518-13C>G
ENST00000429805.1:c.*166-13C>G	ENSP00000411994.1:n.*166-13C>G
ENST00000447944.6:c.518-13C>G	ENSP00000400646.2:n.518-13C>G
NM_033109.4:c.518-13C>G	NP_149100.2:n.518-13C>G
XM_005264629.1:c.278-13C>G	XP_005264686.1:n.278-13C>G
XM_011533142.1:c.518-13C>G	XP_011531444.1:n.518-13C>G
XM_005264629.2:c.278-13C>G	XP_005264686.1:n.278-13C>G
XM_017005172.1:c.278-13C>G	XP_016860661.1:n.278-13C>G
XR_001739010.1:n.548-13C>G
NM_033109.5:c.518-13C>G MANE Select	NP_149100.2:n.518-13C>G