Canonical Allele Identifier: CA1252387884

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647357G= , CM000664.2:g.55647357G=	GRCh38
NC_000002.11:g.55874492G= , CM000664.1:g.55874492G=	GRCh37
NC_000002.10:g.55727996G=	NCBI36
NG_033012.1:g.51554C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1592C= MANE Select	ENSP00000400646.2:p.Thr531=
ENST00000260604.8:c.*1147C=	ENSP00000260604.4:n.*1147C=
ENST00000415374.5:c.1592C=	ENSP00000393953.1:p.Thr531=
ENST00000447944.6:c.1592C=	ENSP00000400646.2:p.Thr531=
ENST00000481066.1:n.26C=
NM_033109.4:c.1592C=	NP_149100.2:p.Thr531=
XM_005264629.1:c.1352C=	XP_005264686.1:p.Thr451=
XM_005264629.2:c.1352C=	XP_005264686.1:p.Thr451=
XM_017005172.1:c.1352C=	XP_016860661.1:p.Thr451=
XR_001739010.1:n.1669C=
NM_033109.5:c.1592C= MANE Select	NP_149100.2:p.Thr531=