Canonical Allele Identifier: CA1950214971

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617414A= , CM000673.2:g.6617414A=	GRCh38
NC_000011.9:g.6638645A= , CM000673.1:g.6638645A=	GRCh37
NC_000011.8:g.6595221A=	NCBI36
NG_008653.1:g.7048T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.281T=	ENSP00000507321.1:p.Leu94=
ENST00000299427.12:c.395T= MANE Select	ENSP00000299427.6:p.Leu132=
ENST00000428886.7:n.483T=
ENST00000436873.7:c.199T=
ENST00000524788.2:n.1407T=
ENST00000524903.2:n.1523T=
ENST00000528571.6:c.*135T=	ENSP00000434647.1:n.*135T=
ENST00000528807.2:n.51T=
ENST00000530040.2:n.424T=
ENST00000533371.6:c.-335T=	ENSP00000437066.1:n.-335T=
ENST00000534644.6:n.396T=
ENST00000642892.1:c.-282T=	ENSP00000494165.1:n.-282T=
ENST00000643439.1:c.*135T=	ENSP00000495849.1:n.*135T=
ENST00000643479.1:n.424T=
ENST00000643516.1:c.282T=
ENST00000644151.1:n.1687T=
ENST00000644218.1:c.395T=	ENSP00000493574.1:p.Leu132=
ENST00000644683.1:c.395T=	ENSP00000494085.1:p.Leu132=
ENST00000644810.1:c.230-261T=	ENSP00000495895.1:n.230-261T=
ENST00000644831.1:n.424T=
ENST00000644933.1:c.-335T=	ENSP00000496133.1:n.-335T=
ENST00000645020.1:n.1423T=
ENST00000645285.1:c.-335T=	ENSP00000495058.1:n.-335T=
ENST00000645331.1:n.614T=
ENST00000645620.1:c.-277T=	ENSP00000493657.1:n.-277T=
ENST00000646777.1:n.424T=
ENST00000647016.1:n.728T=
ENST00000647152.1:c.-335T=	ENSP00000495893.1:n.-335T=
ENST00000647209.1:c.*264T=	ENSP00000495558.1:n.*264T=
ENST00000647346.1:n.1415T=
ENST00000299427.10:c.395T=	ENSP00000299427.6:p.Leu132=
ENST00000428886.6:n.417T=
ENST00000436873.6:c.395T=	ENSP00000398136.2:p.Leu132=
ENST00000528571.5:c.*135T=	ENSP00000434647.1:n.*135T=
ENST00000530040.1:n.507T=
ENST00000533371.5:c.-335T=	ENSP00000437066.1:n.-335T=
ENST00000534644.5:n.380T=
ENST00000611494.4:c.395T=	ENSP00000484546.1:p.Leu132=
NM_000391.3:c.395T=	NP_000382.3:p.Leu132=
NM_000391.4:c.395T= MANE Select	NP_000382.3:p.Leu132=