Canonical Allele Identifier: CA1252392364

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55654942T= , CM000664.2:g.55654942T=	GRCh38
NC_000002.11:g.55882077T= , CM000664.1:g.55882077T=	GRCh37
NC_000002.10:g.55735581T=	NCBI36
NG_033012.1:g.43969A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1453A= MANE Select	ENSP00000400646.2:p.Met485=
ENST00000260604.8:c.*1008A=	ENSP00000260604.4:n.*1008A=
ENST00000415374.5:c.1453A=	ENSP00000393953.1:p.Met485=
ENST00000415489.1:c.460A=
ENST00000447944.6:c.1453A=	ENSP00000400646.2:p.Met485=
NM_033109.4:c.1453A=	NP_149100.2:p.Met485=
XM_005264629.1:c.1213A=	XP_005264686.1:p.Met405=
XM_011533142.1:c.1453A=	XP_011531444.1:p.Met485=
XM_005264629.2:c.1213A=	XP_005264686.1:p.Met405=
XM_017005172.1:c.1213A=	XP_016860661.1:p.Met405=
XR_001739010.1:n.1483A=
NM_033109.5:c.1453A= MANE Select	NP_149100.2:p.Met485=