Canonical Allele Identifier: CA2612258002

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616245-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616245A>G , CM000673.2:g.6616245A>G	GRCh38
NC_000011.9:g.6637476A>G , CM000673.1:g.6637476A>G	GRCh37
NC_000011.8:g.6594052A>G	NCBI36
NG_008653.1:g.8217T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+70T>C	ENSP00000507321.1:n.961+70T>C
ENST00000299427.12:c.1075+70T>C MANE Select	ENSP00000299427.6:n.1075+70T>C
ENST00000436873.7:c.313-171T>C
ENST00000524924.2:n.25T>C
ENST00000533371.6:c.346+70T>C	ENSP00000437066.1:n.346+70T>C
ENST00000642892.1:c.346+70T>C	ENSP00000494165.1:n.346+70T>C
ENST00000643342.1:c.165+70T>C
ENST00000643439.1:c.*815+70T>C	ENSP00000495849.1:n.*815+70T>C
ENST00000643479.1:n.1261+70T>C
ENST00000643516.1:c.584+70T>C
ENST00000644218.1:c.887-171T>C	ENSP00000493574.1:n.887-171T>C
ENST00000644683.1:c.*528+70T>C	ENSP00000494085.1:n.*528+70T>C
ENST00000644810.1:c.796+70T>C	ENSP00000495895.1:n.796+70T>C
ENST00000644831.1:n.1251+70T>C
ENST00000644933.1:c.346+70T>C	ENSP00000496133.1:n.346+70T>C
ENST00000645285.1:c.158-171T>C	ENSP00000495058.1:n.158-171T>C
ENST00000645331.1:n.1668T>C
ENST00000645620.1:c.346+70T>C	ENSP00000493657.1:n.346+70T>C
ENST00000646691.1:n.238T>C
ENST00000646777.1:n.1408+70T>C
ENST00000647016.1:n.1555+70T>C
ENST00000647152.1:c.346+70T>C	ENSP00000495893.1:n.346+70T>C
ENST00000647209.1:c.*944+70T>C	ENSP00000495558.1:n.*944+70T>C
ENST00000647346.1:n.2095+70T>C
ENST00000299427.10:c.1075+70T>C	ENSP00000299427.6:n.1075+70T>C
ENST00000533371.5:c.346+70T>C	ENSP00000437066.1:n.346+70T>C
ENST00000611494.4:c.1075+70T>C	ENSP00000484546.1:n.1075+70T>C
NM_000391.3:c.1075+70T>C	NP_000382.3:n.1075+70T>C
NM_000391.4:c.1075+70T>C MANE Select	NP_000382.3:n.1075+70T>C