Canonical Allele Identifier: CA1252405703

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680888C= , CM000664.2:g.55680888C=	GRCh38
NC_000002.11:g.55908023C= , CM000664.1:g.55908023C=	GRCh37
NC_000002.10:g.55761527C=	NCBI36
NG_033012.1:g.18023G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.484G= MANE Select	ENSP00000400646.2:p.Val162=
ENST00000260604.8:c.484G=	ENSP00000260604.4:p.Val162=
ENST00000415374.5:c.484G=	ENSP00000393953.1:p.Val162=
ENST00000429805.1:c.*132G=	ENSP00000411994.1:n.*132G=
ENST00000447944.6:c.484G=	ENSP00000400646.2:p.Val162=
NM_033109.4:c.484G=	NP_149100.2:p.Val162=
XM_005264629.1:c.244G=	XP_005264686.1:p.Val82=
XM_011533142.1:c.484G=	XP_011531444.1:p.Val162=
XM_005264629.2:c.244G=	XP_005264686.1:p.Val82=
XM_017005172.1:c.244G=	XP_016860661.1:p.Val82=
XR_001739010.1:n.514G=
NM_033109.5:c.484G= MANE Select	NP_149100.2:p.Val162=