Canonical Allele Identifier: CA1950234730

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615529G= , CM000673.2:g.6615529G=	GRCh38
NC_000011.9:g.6636760G= , CM000673.1:g.6636760G=	GRCh37
NC_000011.8:g.6593336G=	NCBI36
NG_008653.1:g.8933C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1065C=	ENSP00000507321.1:p.Phe355=
ENST00000299427.12:c.1179C= MANE Select	ENSP00000299427.6:p.Phe393=
ENST00000436873.7:c.416C=
ENST00000524924.2:n.299C=
ENST00000533371.6:c.450C=	ENSP00000437066.1:p.Phe150=
ENST00000642892.1:c.450C=	ENSP00000494165.1:p.Phe150=
ENST00000643342.1:c.252C=
ENST00000643439.1:c.*919C=	ENSP00000495849.1:n.*919C=
ENST00000643479.1:n.1365C=
ENST00000643516.1:c.688C=
ENST00000644218.1:c.990C=	ENSP00000493574.1:p.Phe330=
ENST00000644683.1:c.*632C=	ENSP00000494085.1:n.*632C=
ENST00000644810.1:c.900C=	ENSP00000495895.1:p.Phe300=
ENST00000644831.1:n.1355C=
ENST00000644933.1:c.*45C=	ENSP00000496133.1:n.*45C=
ENST00000645285.1:c.*45C=	ENSP00000495058.1:n.*45C=
ENST00000645331.1:n.2384C=
ENST00000645620.1:c.450C=	ENSP00000493657.1:p.Phe150=
ENST00000646691.1:n.954C=
ENST00000646777.1:n.1512C=
ENST00000647016.1:n.1659C=
ENST00000647152.1:c.450C=	ENSP00000495893.1:p.Phe150=
ENST00000647209.1:c.*1048C=	ENSP00000495558.1:n.*1048C=
ENST00000647346.1:n.2199C=
ENST00000299427.10:c.1179C=	ENSP00000299427.6:p.Phe393=
ENST00000524924.1:n.134C=
ENST00000532191.1:n.232C=
ENST00000533371.5:c.450C=	ENSP00000437066.1:p.Phe150=
ENST00000611494.4:c.1179C=	ENSP00000484546.1:p.Phe393=
NM_000391.3:c.1179C=	NP_000382.3:p.Phe393=
NM_000391.4:c.1179C= MANE Select	NP_000382.3:p.Phe393=