Canonical Allele Identifier: CA1668433

Gene: PNPT1

Linked Data

• dbSNP Id: rs763703899
• ExAC: 2:55907932 T / C
• gnomAD v2: 2-55907932-T-C
• gnomAD v4: 2-55680797-T-C
• MyVariant Identifiers: chr2:g.55907932T>C (hg19) ; chr2:g.55680797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680797T>C , CM000664.2:g.55680797T>C	GRCh38
NC_000002.11:g.55907932T>C , CM000664.1:g.55907932T>C	GRCh37
NC_000002.10:g.55761436T>C	NCBI36
NG_033012.1:g.18114A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-38A>G MANE Select	ENSP00000400646.2:n.518-38A>G
ENST00000260604.8:c.*35A>G	ENSP00000260604.4:n.*35A>G
ENST00000415374.5:c.518-38A>G	ENSP00000393953.1:n.518-38A>G
ENST00000429805.1:c.*166-38A>G	ENSP00000411994.1:n.*166-38A>G
ENST00000447944.6:c.518-38A>G	ENSP00000400646.2:n.518-38A>G
NM_033109.4:c.518-38A>G	NP_149100.2:n.518-38A>G
XM_005264629.1:c.278-38A>G	XP_005264686.1:n.278-38A>G
XM_011533142.1:c.518-38A>G	XP_011531444.1:n.518-38A>G
XM_005264629.2:c.278-38A>G	XP_005264686.1:n.278-38A>G
XM_017005172.1:c.278-38A>G	XP_016860661.1:n.278-38A>G
XR_001739010.1:n.548-38A>G
NM_033109.5:c.518-38A>G MANE Select	NP_149100.2:n.518-38A>G