Canonical Allele Identifier: CA2659134369

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55680818-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680818T>A , CM000664.2:g.55680818T>A	GRCh38
NC_000002.11:g.55907953T>A , CM000664.1:g.55907953T>A	GRCh37
NC_000002.10:g.55761457T>A	NCBI36
NG_033012.1:g.18093A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.517+37A>T MANE Select	ENSP00000400646.2:n.517+37A>T
ENST00000260604.8:c.*14A>T	ENSP00000260604.4:n.*14A>T
ENST00000415374.5:c.517+37A>T	ENSP00000393953.1:n.517+37A>T
ENST00000429805.1:c.*165+37A>T	ENSP00000411994.1:n.*165+37A>T
ENST00000447944.6:c.517+37A>T	ENSP00000400646.2:n.517+37A>T
NM_033109.4:c.517+37A>T	NP_149100.2:n.517+37A>T
XM_005264629.1:c.277+37A>T	XP_005264686.1:n.277+37A>T
XM_011533142.1:c.517+37A>T	XP_011531444.1:n.517+37A>T
XM_005264629.2:c.277+37A>T	XP_005264686.1:n.277+37A>T
XM_017005172.1:c.277+37A>T	XP_016860661.1:n.277+37A>T
XR_001739010.1:n.547+37A>T
NM_033109.5:c.517+37A>T MANE Select	NP_149100.2:n.517+37A>T