Canonical Allele Identifier: CA1668648

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55693784G>A , CM000664.2:g.55693784G>A	GRCh38
NC_000002.11:g.55920919G>A , CM000664.1:g.55920919G>A	GRCh37
NC_000002.10:g.55774423G>A	NCBI36
NG_033012.1:g.5127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.40C>T MANE Select	NP_149100.2:p.Arg14Trp
ENST00000447944.7:c.40C>T MANE Select	ENSP00000400646.2:p.Arg14Trp
NM_033109.4:c.40C>T	NP_149100.2:p.Arg14Trp
ENST00000260604.8:c.40C>T	ENSP00000260604.4:p.Arg14Trp
ENST00000415374.5:c.40C>T	ENSP00000393953.1:p.Arg14Trp
ENST00000429805.1:c.40C>T	ENSP00000411994.1:p.Arg14Trp
ENST00000447944.6:c.40C>T	ENSP00000400646.2:p.Arg14Trp
ENST00000625249.1:c.40C>T	ENSP00000486227.1:p.Arg14Trp
XM_005264629.1:c.-197C>T	XP_005264686.1:n.-197C>T
XM_005264629.2:c.-197C>T	XP_005264686.1:n.-197C>T
XM_011533142.1:c.40C>T	XP_011531444.1:p.Arg14Trp
XM_017005172.1:c.-140C>T	XP_016860661.1:n.-140C>T
XR_001739010.1:n.70C>T