Canonical Allele Identifier: CA1950234706

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615519A= , CM000673.2:g.6615519A=	GRCh38
NC_000011.9:g.6636750A= , CM000673.1:g.6636750A=	GRCh37
NC_000011.8:g.6593326A=	NCBI36
NG_008653.1:g.8943T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1075T=	ENSP00000507321.1:p.Phe359=
ENST00000299427.12:c.1189T= MANE Select	ENSP00000299427.6:p.Phe397=
ENST00000436873.7:c.426T=
ENST00000524924.2:n.309T=
ENST00000533371.6:c.460T=	ENSP00000437066.1:p.Phe154=
ENST00000642892.1:c.460T=	ENSP00000494165.1:p.Phe154=
ENST00000643342.1:c.262T=
ENST00000643439.1:c.*929T=	ENSP00000495849.1:n.*929T=
ENST00000643479.1:n.1375T=
ENST00000643516.1:c.698T=
ENST00000644218.1:c.1000T=	ENSP00000493574.1:p.Phe334=
ENST00000644683.1:c.*642T=	ENSP00000494085.1:n.*642T=
ENST00000644810.1:c.910T=	ENSP00000495895.1:p.Phe304=
ENST00000644831.1:n.1365T=
ENST00000644933.1:c.*55T=	ENSP00000496133.1:n.*55T=
ENST00000645285.1:c.*55T=	ENSP00000495058.1:n.*55T=
ENST00000645331.1:n.2394T=
ENST00000645620.1:c.460T=	ENSP00000493657.1:p.Phe154=
ENST00000646691.1:n.964T=
ENST00000646777.1:n.1522T=
ENST00000647016.1:n.1669T=
ENST00000647152.1:c.460T=	ENSP00000495893.1:p.Phe154=
ENST00000647209.1:c.*1058T=	ENSP00000495558.1:n.*1058T=
ENST00000647346.1:n.2209T=
ENST00000299427.10:c.1189T=	ENSP00000299427.6:p.Phe397=
ENST00000524924.1:n.144T=
ENST00000532191.1:n.242T=
ENST00000533371.5:c.460T=	ENSP00000437066.1:p.Phe154=
ENST00000611494.4:c.1189T=	ENSP00000484546.1:p.Phe397=
NM_000391.3:c.1189T=	NP_000382.3:p.Phe397=
NM_000391.4:c.1189T= MANE Select	NP_000382.3:p.Phe397=