Canonical Allele Identifier: CA1252405710

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680902A= , CM000664.2:g.55680902A=	GRCh38
NC_000002.11:g.55908037A= , CM000664.1:g.55908037A=	GRCh37
NC_000002.10:g.55761541A=	NCBI36
NG_033012.1:g.18009T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.470T= MANE Select	ENSP00000400646.2:p.Leu157=
ENST00000260604.8:c.470T=	ENSP00000260604.4:p.Leu157=
ENST00000415374.5:c.470T=	ENSP00000393953.1:p.Leu157=
ENST00000429805.1:c.*118T=	ENSP00000411994.1:n.*118T=
ENST00000447944.6:c.470T=	ENSP00000400646.2:p.Leu157=
NM_033109.4:c.470T=	NP_149100.2:p.Leu157=
XM_005264629.1:c.230T=	XP_005264686.1:p.Leu77=
XM_011533142.1:c.470T=	XP_011531444.1:p.Leu157=
XM_005264629.2:c.230T=	XP_005264686.1:p.Leu77=
XM_017005172.1:c.230T=	XP_016860661.1:p.Leu77=
XR_001739010.1:n.500T=
NM_033109.5:c.470T= MANE Select	NP_149100.2:p.Leu157=