Canonical Allele Identifier: CA1252405685

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680835A= , CM000664.2:g.55680835A=	GRCh38
NC_000002.11:g.55907970A= , CM000664.1:g.55907970A=	GRCh37
NC_000002.10:g.55761474A=	NCBI36
NG_033012.1:g.18076T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+20T= MANE Select	ENSP00000400646.2:n.517+20T=
ENST00000260604.8:c.537T=	ENSP00000260604.4:p.Asp179=
ENST00000415374.5:c.517+20T=	ENSP00000393953.1:n.517+20T=
ENST00000429805.1:c.*165+20T=	ENSP00000411994.1:n.*165+20T=
ENST00000447944.6:c.517+20T=	ENSP00000400646.2:n.517+20T=
NM_033109.4:c.517+20T=	NP_149100.2:n.517+20T=
XM_005264629.1:c.277+20T=	XP_005264686.1:n.277+20T=
XM_011533142.1:c.517+20T=	XP_011531444.1:n.517+20T=
XM_005264629.2:c.277+20T=	XP_005264686.1:n.277+20T=
XM_017005172.1:c.277+20T=	XP_016860661.1:n.277+20T=
XR_001739010.1:n.547+20T=
NM_033109.5:c.517+20T= MANE Select	NP_149100.2:n.517+20T=