Canonical Allele Identifier: CA1950237815

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617031A= , CM000673.2:g.6617031A=	GRCh38
NC_000011.9:g.6638262A= , CM000673.1:g.6638262A=	GRCh37
NC_000011.8:g.6594838A=	NCBI36
NG_008653.1:g.7431T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.517T=	ENSP00000507321.1:p.Leu173=
ENST00000299427.12:c.631T= MANE Select	ENSP00000299427.6:p.Leu211=
ENST00000436873.7:c.312+270T=
ENST00000524788.2:n.1790T=
ENST00000524903.2:n.1906T=
ENST00000528807.2:n.287T=
ENST00000530040.2:n.479+328T=
ENST00000533371.6:c.-99T=	ENSP00000437066.1:n.-99T=
ENST00000534644.6:n.579T=
ENST00000642892.1:c.-99T=	ENSP00000494165.1:n.-99T=
ENST00000643439.1:c.*371T=	ENSP00000495849.1:n.*371T=
ENST00000643479.1:n.660T=
ENST00000643516.1:c.395+270T=
ENST00000644151.1:n.2070T=
ENST00000644218.1:c.631T=	ENSP00000493574.1:p.Leu211=
ENST00000644683.1:c.*84T=	ENSP00000494085.1:n.*84T=
ENST00000644810.1:c.352T=	ENSP00000495895.1:p.Leu118=
ENST00000644831.1:n.807T=
ENST00000644933.1:c.-99T=	ENSP00000496133.1:n.-99T=
ENST00000645020.1:n.1806T=
ENST00000645285.1:c.-99T=	ENSP00000495058.1:n.-99T=
ENST00000645331.1:n.997T=
ENST00000645620.1:c.-99T=	ENSP00000493657.1:n.-99T=
ENST00000646777.1:n.807T=
ENST00000647016.1:n.1111T=
ENST00000647152.1:c.-99T=	ENSP00000495893.1:n.-99T=
ENST00000647209.1:c.*500T=	ENSP00000495558.1:n.*500T=
ENST00000647346.1:n.1651T=
ENST00000299427.10:c.631T=	ENSP00000299427.6:p.Leu211=
ENST00000428886.6:n.800T=
ENST00000436873.6:c.450+328T=	ENSP00000398136.2:n.450+328T=
ENST00000524788.1:n.331T=
ENST00000528571.5:c.*371T=	ENSP00000434647.1:n.*371T=
ENST00000528807.1:n.181T=
ENST00000533371.5:c.-99T=	ENSP00000437066.1:n.-99T=
ENST00000534644.5:n.616T=
ENST00000611494.4:c.631T=	ENSP00000484546.1:p.Leu211=
NM_000391.3:c.631T=	NP_000382.3:p.Leu211=
NM_000391.4:c.631T= MANE Select	NP_000382.3:p.Leu211=