Canonical Allele Identifier: CA1950215221

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617627G= , CM000673.2:g.6617627G=	GRCh38
NC_000011.9:g.6638858G= , CM000673.1:g.6638858G=	GRCh37
NC_000011.8:g.6595434G=	NCBI36
NG_008653.1:g.6835C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.265C=	ENSP00000507321.1:p.Arg89=
ENST00000299427.12:c.379C= MANE Select	ENSP00000299427.6:p.Arg127=
ENST00000428886.7:n.467C=
ENST00000436873.7:c.183C=
ENST00000524788.2:n.1391C=
ENST00000524903.2:n.1507C=
ENST00000528571.6:c.*119C=	ENSP00000434647.1:n.*119C=
ENST00000530040.2:n.408C=
ENST00000533371.6:c.-351C=	ENSP00000437066.1:n.-351C=
ENST00000534644.6:n.380C=
ENST00000642892.1:c.-298C=	ENSP00000494165.1:n.-298C=
ENST00000643439.1:c.*119C=	ENSP00000495849.1:n.*119C=
ENST00000643479.1:n.408C=
ENST00000643516.1:c.266C=
ENST00000644151.1:n.1671C=
ENST00000644218.1:c.379C=	ENSP00000493574.1:p.Arg127=
ENST00000644683.1:c.379C=	ENSP00000494085.1:p.Arg127=
ENST00000644810.1:c.230-474C=	ENSP00000495895.1:n.230-474C=
ENST00000644831.1:n.408C=
ENST00000644933.1:c.-351C=	ENSP00000496133.1:n.-351C=
ENST00000645020.1:n.1407C=
ENST00000645285.1:c.-351C=	ENSP00000495058.1:n.-351C=
ENST00000645331.1:n.401C=
ENST00000645620.1:c.-293C=	ENSP00000493657.1:n.-293C=
ENST00000646777.1:n.408C=
ENST00000647016.1:n.712C=
ENST00000647152.1:c.-351C=	ENSP00000495893.1:n.-351C=
ENST00000647209.1:c.*248C=	ENSP00000495558.1:n.*248C=
ENST00000647346.1:n.1399C=
ENST00000299427.10:c.379C=	ENSP00000299427.6:p.Arg127=
ENST00000428886.6:n.401C=
ENST00000436873.6:c.379C=	ENSP00000398136.2:p.Arg127=
ENST00000528571.5:c.*119C=	ENSP00000434647.1:n.*119C=
ENST00000530040.1:n.491C=
ENST00000533371.5:c.-351C=	ENSP00000437066.1:n.-351C=
ENST00000534644.5:n.364C=
ENST00000611494.4:c.379C=	ENSP00000484546.1:p.Arg127=
NM_000391.3:c.379C=	NP_000382.3:p.Arg127=
NM_000391.4:c.379C= MANE Select	NP_000382.3:p.Arg127=