Canonical Allele Identifier: CA2612258521

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616962-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616962T>C , CM000673.2:g.6616962T>C	GRCh38
NC_000011.9:g.6638193T>C , CM000673.1:g.6638193T>C	GRCh37
NC_000011.8:g.6594769T>C	NCBI36
NG_008653.1:g.7500A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.573+13A>G	ENSP00000507321.1:n.573+13A>G
ENST00000299427.12:c.687+13A>G MANE Select	ENSP00000299427.6:n.687+13A>G
ENST00000436873.7:c.312+339A>G
ENST00000524788.2:n.1846+13A>G
ENST00000524903.2:n.1962+13A>G
ENST00000528807.2:n.343+13A>G
ENST00000530040.2:n.479+397A>G
ENST00000533371.6:c.-43+13A>G	ENSP00000437066.1:n.-43+13A>G
ENST00000642892.1:c.-43+13A>G	ENSP00000494165.1:n.-43+13A>G
ENST00000643439.1:c.*427+13A>G	ENSP00000495849.1:n.*427+13A>G
ENST00000643479.1:n.716+13A>G
ENST00000643516.1:c.395+339A>G
ENST00000644151.1:n.2126+13A>G
ENST00000644218.1:c.687+13A>G	ENSP00000493574.1:n.687+13A>G
ENST00000644683.1:c.*140+13A>G	ENSP00000494085.1:n.*140+13A>G
ENST00000644810.1:c.408+13A>G	ENSP00000495895.1:n.408+13A>G
ENST00000644831.1:n.863+13A>G
ENST00000644933.1:c.-43+13A>G	ENSP00000496133.1:n.-43+13A>G
ENST00000645020.1:n.1875A>G
ENST00000645285.1:c.-43+13A>G	ENSP00000495058.1:n.-43+13A>G
ENST00000645331.1:n.1053+13A>G
ENST00000645620.1:c.-43+13A>G	ENSP00000493657.1:n.-43+13A>G
ENST00000646777.1:n.863+13A>G
ENST00000647016.1:n.1167+13A>G
ENST00000647152.1:c.-43+13A>G	ENSP00000495893.1:n.-43+13A>G
ENST00000647209.1:c.*556+13A>G	ENSP00000495558.1:n.*556+13A>G
ENST00000647346.1:n.1707+13A>G
ENST00000299427.10:c.687+13A>G	ENSP00000299427.6:n.687+13A>G
ENST00000436873.6:c.450+397A>G	ENSP00000398136.2:n.450+397A>G
ENST00000524788.1:n.387+13A>G
ENST00000528807.1:n.237+13A>G
ENST00000533371.5:c.-43+13A>G	ENSP00000437066.1:n.-43+13A>G
ENST00000611494.4:c.687+13A>G	ENSP00000484546.1:n.687+13A>G
NM_000391.3:c.687+13A>G	NP_000382.3:n.687+13A>G
NM_000391.4:c.687+13A>G MANE Select	NP_000382.3:n.687+13A>G