Canonical Allele Identifier: CA2612257985

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616202-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616202G>T , CM000673.2:g.6616202G>T	GRCh38
NC_000011.9:g.6637433G>T , CM000673.1:g.6637433G>T	GRCh37
NC_000011.8:g.6594009G>T	NCBI36
NG_008653.1:g.8260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.961+113C>A	ENSP00000507321.1:n.961+113C>A
ENST00000299427.12:c.1075+113C>A MANE Select	ENSP00000299427.6:n.1075+113C>A
ENST00000436873.7:c.313-128C>A
ENST00000524924.2:n.68C>A
ENST00000533371.6:c.346+113C>A	ENSP00000437066.1:n.346+113C>A
ENST00000642892.1:c.346+113C>A	ENSP00000494165.1:n.346+113C>A
ENST00000643342.1:c.165+113C>A
ENST00000643439.1:c.*815+113C>A	ENSP00000495849.1:n.*815+113C>A
ENST00000643479.1:n.1261+113C>A
ENST00000643516.1:c.584+113C>A
ENST00000644218.1:c.887-128C>A	ENSP00000493574.1:n.887-128C>A
ENST00000644683.1:c.*528+113C>A	ENSP00000494085.1:n.*528+113C>A
ENST00000644810.1:c.796+113C>A	ENSP00000495895.1:n.796+113C>A
ENST00000644831.1:n.1251+113C>A
ENST00000644933.1:c.346+113C>A	ENSP00000496133.1:n.346+113C>A
ENST00000645285.1:c.158-128C>A	ENSP00000495058.1:n.158-128C>A
ENST00000645331.1:n.1711C>A
ENST00000645620.1:c.346+113C>A	ENSP00000493657.1:n.346+113C>A
ENST00000646691.1:n.281C>A
ENST00000646777.1:n.1408+113C>A
ENST00000647016.1:n.1555+113C>A
ENST00000647152.1:c.346+113C>A	ENSP00000495893.1:n.346+113C>A
ENST00000647209.1:c.*944+113C>A	ENSP00000495558.1:n.*944+113C>A
ENST00000647346.1:n.2095+113C>A
ENST00000299427.10:c.1075+113C>A	ENSP00000299427.6:n.1075+113C>A
ENST00000533371.5:c.346+113C>A	ENSP00000437066.1:n.346+113C>A
ENST00000611494.4:c.1075+113C>A	ENSP00000484546.1:n.1075+113C>A
NM_000391.3:c.1075+113C>A	NP_000382.3:n.1075+113C>A
NM_000391.4:c.1075+113C>A MANE Select	NP_000382.3:n.1075+113C>A