Canonical Allele Identifier: CA1950237129

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616681G= , CM000673.2:g.6616681G=	GRCh38
NC_000011.9:g.6637912G= , CM000673.1:g.6637912G=	GRCh37
NC_000011.8:g.6594488G=	NCBI36
NG_008653.1:g.7781C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.752C=	ENSP00000507321.1:p.Thr251=
ENST00000299427.12:c.866C= MANE Select	ENSP00000299427.6:p.Thr289=
ENST00000436873.7:c.313-607C=
ENST00000524788.2:n.2025C=
ENST00000524903.2:n.2141C=
ENST00000528807.2:n.522C=
ENST00000530040.2:n.480-178C=
ENST00000533371.6:c.137C=	ENSP00000437066.1:p.Thr46=
ENST00000642892.1:c.137C=	ENSP00000494165.1:p.Thr46=
ENST00000643439.1:c.*606C=	ENSP00000495849.1:n.*606C=
ENST00000643479.1:n.895C=
ENST00000643516.1:c.396-178C=
ENST00000644151.1:n.2305C=
ENST00000644218.1:c.866C=	ENSP00000493574.1:p.Thr289=
ENST00000644683.1:c.*319C=	ENSP00000494085.1:n.*319C=
ENST00000644810.1:c.587C=	ENSP00000495895.1:p.Thr196=
ENST00000644831.1:n.1042C=
ENST00000644933.1:c.137C=	ENSP00000496133.1:p.Thr46=
ENST00000645020.1:n.2156C=
ENST00000645285.1:c.137C=	ENSP00000495058.1:p.Thr46=
ENST00000645331.1:n.1232C=
ENST00000645620.1:c.137C=	ENSP00000493657.1:p.Thr46=
ENST00000646777.1:n.1042C=
ENST00000647016.1:n.1346C=
ENST00000647152.1:c.137C=	ENSP00000495893.1:p.Thr46=
ENST00000647209.1:c.*735C=	ENSP00000495558.1:n.*735C=
ENST00000647346.1:n.1886C=
ENST00000299427.10:c.866C=	ENSP00000299427.6:p.Thr289=
ENST00000436873.6:c.451-178C=	ENSP00000398136.2:n.451-178C=
ENST00000528807.1:n.416C=
ENST00000533371.5:c.137C=	ENSP00000437066.1:p.Thr46=
ENST00000611494.4:c.866C=	ENSP00000484546.1:p.Thr289=
NM_000391.3:c.866C=	NP_000382.3:p.Thr289=
NM_000391.4:c.866C= MANE Select	NP_000382.3:p.Thr289=