Canonical Allele Identifier: CA346940877

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55684996A>T , CM000664.2:g.55684996A>T	GRCh38
NC_000002.11:g.55912131A>T , CM000664.1:g.55912131A>T	GRCh37
NC_000002.10:g.55765635A>T	NCBI36
NG_033012.1:g.13915T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.350T>A MANE Select	ENSP00000400646.2:p.Leu117Gln
ENST00000260604.8:c.350T>A	ENSP00000260604.4:p.Leu117Gln
ENST00000415374.5:c.350T>A	ENSP00000393953.1:p.Leu117Gln
ENST00000429805.1:c.214T>A	ENSP00000411994.1:p.Ter72Arg
ENST00000447944.6:c.350T>A	ENSP00000400646.2:p.Leu117Gln
ENST00000625249.1:c.214T>A	ENSP00000486227.1:p.Ter72Arg
NM_033109.4:c.350T>A	NP_149100.2:p.Leu117Gln
XM_005264629.1:c.110T>A	XP_005264686.1:p.Leu37Gln
XM_011533142.1:c.350T>A	XP_011531444.1:p.Leu117Gln
XM_005264629.2:c.110T>A	XP_005264686.1:p.Leu37Gln
XM_017005172.1:c.110T>A	XP_016860661.1:p.Leu37Gln
XR_001739010.1:n.380T>A
NM_033109.5:c.350T>A MANE Select	NP_149100.2:p.Leu117Gln