Canonical Allele Identifier: CA2612257988

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616206-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616206G>A , CM000673.2:g.6616206G>A	GRCh38
NC_000011.9:g.6637437G>A , CM000673.1:g.6637437G>A	GRCh37
NC_000011.8:g.6594013G>A	NCBI36
NG_008653.1:g.8256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.961+109C>T	ENSP00000507321.1:n.961+109C>T
ENST00000299427.12:c.1075+109C>T MANE Select	ENSP00000299427.6:n.1075+109C>T
ENST00000436873.7:c.313-132C>T
ENST00000524924.2:n.64C>T
ENST00000533371.6:c.346+109C>T	ENSP00000437066.1:n.346+109C>T
ENST00000642892.1:c.346+109C>T	ENSP00000494165.1:n.346+109C>T
ENST00000643342.1:c.165+109C>T
ENST00000643439.1:c.*815+109C>T	ENSP00000495849.1:n.*815+109C>T
ENST00000643479.1:n.1261+109C>T
ENST00000643516.1:c.584+109C>T
ENST00000644218.1:c.887-132C>T	ENSP00000493574.1:n.887-132C>T
ENST00000644683.1:c.*528+109C>T	ENSP00000494085.1:n.*528+109C>T
ENST00000644810.1:c.796+109C>T	ENSP00000495895.1:n.796+109C>T
ENST00000644831.1:n.1251+109C>T
ENST00000644933.1:c.346+109C>T	ENSP00000496133.1:n.346+109C>T
ENST00000645285.1:c.158-132C>T	ENSP00000495058.1:n.158-132C>T
ENST00000645331.1:n.1707C>T
ENST00000645620.1:c.346+109C>T	ENSP00000493657.1:n.346+109C>T
ENST00000646691.1:n.277C>T
ENST00000646777.1:n.1408+109C>T
ENST00000647016.1:n.1555+109C>T
ENST00000647152.1:c.346+109C>T	ENSP00000495893.1:n.346+109C>T
ENST00000647209.1:c.*944+109C>T	ENSP00000495558.1:n.*944+109C>T
ENST00000647346.1:n.2095+109C>T
ENST00000299427.10:c.1075+109C>T	ENSP00000299427.6:n.1075+109C>T
ENST00000533371.5:c.346+109C>T	ENSP00000437066.1:n.346+109C>T
ENST00000611494.4:c.1075+109C>T	ENSP00000484546.1:n.1075+109C>T
NM_000391.3:c.1075+109C>T	NP_000382.3:n.1075+109C>T
NM_000391.4:c.1075+109C>T MANE Select	NP_000382.3:n.1075+109C>T