Canonical Allele Identifier: CA2612257148

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615347-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615347G>A , CM000673.2:g.6615347G>A	GRCh38
NC_000011.9:g.6636578G>A , CM000673.1:g.6636578G>A	GRCh37
NC_000011.8:g.6593154G>A	NCBI36
NG_008653.1:g.9115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1153-18C>T	ENSP00000507321.1:n.1153-18C>T
ENST00000299427.12:c.1267-18C>T MANE Select	ENSP00000299427.6:n.1267-18C>T
ENST00000436873.7:c.504-18C>T
ENST00000524611.2:n.109C>T
ENST00000524924.2:n.387-18C>T
ENST00000533371.6:c.538-18C>T	ENSP00000437066.1:n.538-18C>T
ENST00000642892.1:c.538-18C>T	ENSP00000494165.1:n.538-18C>T
ENST00000643342.1:c.340-18C>T
ENST00000643439.1:c.*1007-18C>T	ENSP00000495849.1:n.*1007-18C>T
ENST00000643479.1:n.1453-18C>T
ENST00000643516.1:c.776-18C>T
ENST00000644218.1:c.1078-18C>T	ENSP00000493574.1:n.1078-18C>T
ENST00000644683.1:c.*720-18C>T	ENSP00000494085.1:n.*720-18C>T
ENST00000644810.1:c.988-18C>T	ENSP00000495895.1:n.988-18C>T
ENST00000644831.1:n.1443-18C>T
ENST00000644933.1:c.*133-18C>T	ENSP00000496133.1:n.*133-18C>T
ENST00000645285.1:c.*133-18C>T	ENSP00000495058.1:n.*133-18C>T
ENST00000645331.1:n.2472-18C>T
ENST00000645620.1:c.538-18C>T	ENSP00000493657.1:n.538-18C>T
ENST00000646691.1:n.1136C>T
ENST00000646777.1:n.1600-18C>T
ENST00000647016.1:n.1747-18C>T
ENST00000647152.1:c.538-18C>T	ENSP00000495893.1:n.538-18C>T
ENST00000647209.1:c.*1136-18C>T	ENSP00000495558.1:n.*1136-18C>T
ENST00000647346.1:n.2287-18C>T
ENST00000299427.10:c.1267-18C>T	ENSP00000299427.6:n.1267-18C>T
ENST00000524611.1:n.127C>T
ENST00000524924.1:n.222-18C>T
ENST00000532191.1:n.320-18C>T
ENST00000533371.5:c.538-18C>T	ENSP00000437066.1:n.538-18C>T
ENST00000611494.4:c.1267-18C>T	ENSP00000484546.1:n.1267-18C>T
NM_000391.3:c.1267-18C>T	NP_000382.3:n.1267-18C>T
NM_000391.4:c.1267-18C>T MANE Select	NP_000382.3:n.1267-18C>T