Canonical Allele Identifier: CA2612258517

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616944-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616944T>C , CM000673.2:g.6616944T>C	GRCh38
NC_000011.9:g.6638175T>C , CM000673.1:g.6638175T>C	GRCh37
NC_000011.8:g.6594751T>C	NCBI36
NG_008653.1:g.7518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.573+31A>G	ENSP00000507321.1:n.573+31A>G
ENST00000299427.12:c.687+31A>G MANE Select	ENSP00000299427.6:n.687+31A>G
ENST00000436873.7:c.312+357A>G
ENST00000524788.2:n.1846+31A>G
ENST00000524903.2:n.1962+31A>G
ENST00000528807.2:n.343+31A>G
ENST00000530040.2:n.479+415A>G
ENST00000533371.6:c.-43+31A>G	ENSP00000437066.1:n.-43+31A>G
ENST00000642892.1:c.-43+31A>G	ENSP00000494165.1:n.-43+31A>G
ENST00000643439.1:c.*427+31A>G	ENSP00000495849.1:n.*427+31A>G
ENST00000643479.1:n.716+31A>G
ENST00000643516.1:c.395+357A>G
ENST00000644151.1:n.2126+31A>G
ENST00000644218.1:c.687+31A>G	ENSP00000493574.1:n.687+31A>G
ENST00000644683.1:c.*140+31A>G	ENSP00000494085.1:n.*140+31A>G
ENST00000644810.1:c.408+31A>G	ENSP00000495895.1:n.408+31A>G
ENST00000644831.1:n.863+31A>G
ENST00000644933.1:c.-43+31A>G	ENSP00000496133.1:n.-43+31A>G
ENST00000645020.1:n.1893A>G
ENST00000645285.1:c.-43+31A>G	ENSP00000495058.1:n.-43+31A>G
ENST00000645331.1:n.1053+31A>G
ENST00000645620.1:c.-43+31A>G	ENSP00000493657.1:n.-43+31A>G
ENST00000646777.1:n.863+31A>G
ENST00000647016.1:n.1167+31A>G
ENST00000647152.1:c.-43+31A>G	ENSP00000495893.1:n.-43+31A>G
ENST00000647209.1:c.*556+31A>G	ENSP00000495558.1:n.*556+31A>G
ENST00000647346.1:n.1707+31A>G
ENST00000299427.10:c.687+31A>G	ENSP00000299427.6:n.687+31A>G
ENST00000436873.6:c.450+415A>G	ENSP00000398136.2:n.450+415A>G
ENST00000524788.1:n.387+31A>G
ENST00000528807.1:n.237+31A>G
ENST00000533371.5:c.-43+31A>G	ENSP00000437066.1:n.-43+31A>G
ENST00000611494.4:c.687+31A>G	ENSP00000484546.1:n.687+31A>G
NM_000391.3:c.687+31A>G	NP_000382.3:n.687+31A>G
NM_000391.4:c.687+31A>G MANE Select	NP_000382.3:n.687+31A>G