Canonical Allele Identifier: CA1252405657

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697224094
• gnomAD v4: 2-55680789-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680789A>G , CM000664.2:g.55680789A>G	GRCh38
NC_000002.11:g.55907924A>G , CM000664.1:g.55907924A>G	GRCh37
NC_000002.10:g.55761428A>G	NCBI36
NG_033012.1:g.18122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.518-30T>C MANE Select	ENSP00000400646.2:n.518-30T>C
ENST00000260604.8:c.*43T>C	ENSP00000260604.4:n.*43T>C
ENST00000415374.5:c.518-30T>C	ENSP00000393953.1:n.518-30T>C
ENST00000429805.1:c.*166-30T>C	ENSP00000411994.1:n.*166-30T>C
ENST00000447944.6:c.518-30T>C	ENSP00000400646.2:n.518-30T>C
NM_033109.4:c.518-30T>C	NP_149100.2:n.518-30T>C
XM_005264629.1:c.278-30T>C	XP_005264686.1:n.278-30T>C
XM_011533142.1:c.518-30T>C	XP_011531444.1:n.518-30T>C
XM_005264629.2:c.278-30T>C	XP_005264686.1:n.278-30T>C
XM_017005172.1:c.278-30T>C	XP_016860661.1:n.278-30T>C
XR_001739010.1:n.548-30T>C
NM_033109.5:c.518-30T>C MANE Select	NP_149100.2:n.518-30T>C