Canonical Allele Identifier: CA1950235612

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616034G= , CM000673.2:g.6616034G=	GRCh38
NC_000011.9:g.6637265G= , CM000673.1:g.6637265G=	GRCh37
NC_000011.8:g.6593841G=	NCBI36
NG_008653.1:g.8428C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1002C=	ENSP00000507321.1:p.His334=
ENST00000299427.12:c.1116C= MANE Select	ENSP00000299427.6:p.His372=
ENST00000436873.7:c.353C=
ENST00000524924.2:n.236C=
ENST00000533371.6:c.387C=	ENSP00000437066.1:p.His129=
ENST00000642892.1:c.387C=	ENSP00000494165.1:p.His129=
ENST00000643342.1:c.206C=
ENST00000643439.1:c.*856C=	ENSP00000495849.1:n.*856C=
ENST00000643479.1:n.1302C=
ENST00000643516.1:c.625C=
ENST00000644218.1:c.927C=	ENSP00000493574.1:p.His309=
ENST00000644683.1:c.*569C=	ENSP00000494085.1:n.*569C=
ENST00000644810.1:c.837C=	ENSP00000495895.1:p.His279=
ENST00000644831.1:n.1292C=
ENST00000644933.1:c.387C=	ENSP00000496133.1:p.His129=
ENST00000645285.1:c.198C=	ENSP00000495058.1:p.His66=
ENST00000645331.1:n.1879C=
ENST00000645620.1:c.387C=	ENSP00000493657.1:p.His129=
ENST00000646691.1:n.449C=
ENST00000646777.1:n.1449C=
ENST00000647016.1:n.1596C=
ENST00000647152.1:c.387C=	ENSP00000495893.1:p.His129=
ENST00000647209.1:c.*985C=	ENSP00000495558.1:n.*985C=
ENST00000647346.1:n.2136C=
ENST00000299427.10:c.1116C=	ENSP00000299427.6:p.His372=
ENST00000524924.1:n.71C=
ENST00000533371.5:c.387C=	ENSP00000437066.1:p.His129=
ENST00000611494.4:c.1116C=	ENSP00000484546.1:p.His372=
NM_000391.3:c.1116C=	NP_000382.3:p.His372=
NM_000391.4:c.1116C= MANE Select	NP_000382.3:p.His372=