Canonical Allele Identifier: CA1950232745

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614645T= , CM000673.2:g.6614645T=	GRCh38
NC_000011.9:g.6635876T= , CM000673.1:g.6635876T=	GRCh37
NC_000011.8:g.6592452T=	NCBI36
NG_008653.1:g.9817A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1479A=	ENSP00000507321.1:p.Val493=
ENST00000299427.12:c.1593A= MANE Select	ENSP00000299427.6:p.Val531=
ENST00000524611.2:n.632A=
ENST00000524924.2:n.713A=
ENST00000533371.6:c.864A=	ENSP00000437066.1:p.Val288=
ENST00000642892.1:c.864A=	ENSP00000494165.1:p.Val288=
ENST00000643342.1:c.666A=
ENST00000643439.1:c.*1333A=	ENSP00000495849.1:n.*1333A=
ENST00000643479.1:n.1779A=
ENST00000643516.1:c.1102A=
ENST00000644218.1:c.1404A=	ENSP00000493574.1:p.Val468=
ENST00000644683.1:c.*1046A=	ENSP00000494085.1:n.*1046A=
ENST00000644810.1:c.1314A=	ENSP00000495895.1:p.Val438=
ENST00000644831.1:n.1769A=
ENST00000644933.1:c.*459A=	ENSP00000496133.1:n.*459A=
ENST00000645285.1:c.*459A=	ENSP00000495058.1:n.*459A=
ENST00000645331.1:n.2798A=
ENST00000645620.1:c.864A=	ENSP00000493657.1:p.Val288=
ENST00000646691.1:n.1480A=
ENST00000646777.1:n.1926A=
ENST00000647016.1:n.2073A=
ENST00000647152.1:c.864A=	ENSP00000495893.1:p.Val288=
ENST00000647209.1:c.*1462A=	ENSP00000495558.1:n.*1462A=
ENST00000647346.1:n.2613A=
ENST00000299427.10:c.1593A=	ENSP00000299427.6:p.Val531=
ENST00000533371.5:c.864A=	ENSP00000437066.1:p.Val288=
ENST00000611494.4:c.1593A=	ENSP00000484546.1:p.Val531=
NM_000391.3:c.1593A=	NP_000382.3:p.Val531=
NM_000391.4:c.1593A= MANE Select	NP_000382.3:p.Val531=