Canonical Allele Identifier: CA1252405689

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680848T= , CM000664.2:g.55680848T=	GRCh38
NC_000002.11:g.55907983T= , CM000664.1:g.55907983T=	GRCh37
NC_000002.10:g.55761487T=	NCBI36
NG_033012.1:g.18063A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+7A= MANE Select	ENSP00000400646.2:n.517+7A=
ENST00000260604.8:c.524A=	ENSP00000260604.4:p.Tyr175=
ENST00000415374.5:c.517+7A=	ENSP00000393953.1:n.517+7A=
ENST00000429805.1:c.*165+7A=	ENSP00000411994.1:n.*165+7A=
ENST00000447944.6:c.517+7A=	ENSP00000400646.2:n.517+7A=
NM_033109.4:c.517+7A=	NP_149100.2:n.517+7A=
XM_005264629.1:c.277+7A=	XP_005264686.1:n.277+7A=
XM_011533142.1:c.517+7A=	XP_011531444.1:n.517+7A=
XM_005264629.2:c.277+7A=	XP_005264686.1:n.277+7A=
XM_017005172.1:c.277+7A=	XP_016860661.1:n.277+7A=
XR_001739010.1:n.547+7A=
NM_033109.5:c.517+7A= MANE Select	NP_149100.2:n.517+7A=