Canonical Allele Identifier: CA1252405157

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679788T= , CM000664.2:g.55679788T=	GRCh38
NC_000002.11:g.55906923T= , CM000664.1:g.55906923T=	GRCh37
NC_000002.10:g.55760427T=	NCBI36
NG_033012.1:g.19123A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.573A= MANE Select	ENSP00000400646.2:p.Val191=
ENST00000260604.8:c.*128A=	ENSP00000260604.4:n.*128A=
ENST00000415374.5:c.573A=	ENSP00000393953.1:p.Val191=
ENST00000429805.1:c.*221A=	ENSP00000411994.1:n.*221A=
ENST00000447944.6:c.573A=	ENSP00000400646.2:p.Val191=
NM_033109.4:c.573A=	NP_149100.2:p.Val191=
XM_005264629.1:c.333A=	XP_005264686.1:p.Val111=
XM_011533142.1:c.573A=	XP_011531444.1:p.Val191=
XM_005264629.2:c.333A=	XP_005264686.1:p.Val111=
XM_017005172.1:c.333A=	XP_016860661.1:p.Val111=
XR_001739010.1:n.603A=
NM_033109.5:c.573A= MANE Select	NP_149100.2:p.Val191=