Canonical Allele Identifier: CA1950214795

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617304A= , CM000673.2:g.6617304A=	GRCh38
NC_000011.9:g.6638535A= , CM000673.1:g.6638535A=	GRCh37
NC_000011.8:g.6595111A=	NCBI36
NG_008653.1:g.7158T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.391T=	ENSP00000507321.1:p.Phe131=
ENST00000299427.12:c.505T= MANE Select	ENSP00000299427.6:p.Phe169=
ENST00000428886.7:n.593T=
ENST00000436873.7:c.309T=
ENST00000524788.2:n.1517T=
ENST00000524903.2:n.1633T=
ENST00000528571.6:c.*245T=	ENSP00000434647.1:n.*245T=
ENST00000528807.2:n.161T=
ENST00000530040.2:n.479+55T=
ENST00000533371.6:c.-225T=	ENSP00000437066.1:n.-225T=
ENST00000534644.6:n.456+50T=
ENST00000642892.1:c.-222+50T=	ENSP00000494165.1:n.-222+50T=
ENST00000643439.1:c.*245T=	ENSP00000495849.1:n.*245T=
ENST00000643479.1:n.534T=
ENST00000643516.1:c.392T=
ENST00000644151.1:n.1797T=
ENST00000644218.1:c.505T=	ENSP00000493574.1:p.Phe169=
ENST00000644683.1:c.450+55T=	ENSP00000494085.1:n.450+55T=
ENST00000644810.1:c.230-151T=	ENSP00000495895.1:n.230-151T=
ENST00000644831.1:n.534T=
ENST00000644933.1:c.-225T=	ENSP00000496133.1:n.-225T=
ENST00000645020.1:n.1533T=
ENST00000645285.1:c.-225T=	ENSP00000495058.1:n.-225T=
ENST00000645331.1:n.724T=
ENST00000645620.1:c.-222+55T=	ENSP00000493657.1:n.-222+55T=
ENST00000646777.1:n.534T=
ENST00000647016.1:n.838T=
ENST00000647152.1:c.-225T=	ENSP00000495893.1:n.-225T=
ENST00000647209.1:c.*374T=	ENSP00000495558.1:n.*374T=
ENST00000647346.1:n.1525T=
ENST00000299427.10:c.505T=	ENSP00000299427.6:p.Phe169=
ENST00000428886.6:n.527T=
ENST00000436873.6:c.450+55T=	ENSP00000398136.2:n.450+55T=
ENST00000524788.1:n.58T=
ENST00000528571.5:c.*245T=	ENSP00000434647.1:n.*245T=
ENST00000533371.5:c.-225T=	ENSP00000437066.1:n.-225T=
ENST00000534644.5:n.490T=
ENST00000611494.4:c.505T=	ENSP00000484546.1:p.Phe169=
NM_000391.3:c.505T=	NP_000382.3:p.Phe169=
NM_000391.4:c.505T= MANE Select	NP_000382.3:p.Phe169=