Canonical Allele Identifier: CA2612258099

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616593-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616593C>A , CM000673.2:g.6616593C>A	GRCh38
NC_000011.9:g.6637824C>A , CM000673.1:g.6637824C>A	GRCh37
NC_000011.8:g.6594400C>A	NCBI36
NG_008653.1:g.7869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772+68G>T	ENSP00000507321.1:n.772+68G>T
ENST00000299427.12:c.886+68G>T MANE Select	ENSP00000299427.6:n.886+68G>T
ENST00000436873.7:c.313-519G>T
ENST00000524903.2:n.2229G>T
ENST00000528807.2:n.610G>T
ENST00000530040.2:n.480-90G>T
ENST00000533371.6:c.157+68G>T	ENSP00000437066.1:n.157+68G>T
ENST00000642892.1:c.157+68G>T	ENSP00000494165.1:n.157+68G>T
ENST00000643439.1:c.*626+68G>T	ENSP00000495849.1:n.*626+68G>T
ENST00000643479.1:n.983G>T
ENST00000643516.1:c.396-90G>T
ENST00000644218.1:c.886+68G>T	ENSP00000493574.1:n.886+68G>T
ENST00000644683.1:c.*339+68G>T	ENSP00000494085.1:n.*339+68G>T
ENST00000644810.1:c.607+68G>T	ENSP00000495895.1:n.607+68G>T
ENST00000644831.1:n.1062+68G>T
ENST00000644933.1:c.157+68G>T	ENSP00000496133.1:n.157+68G>T
ENST00000645020.1:n.2244G>T
ENST00000645285.1:c.157+68G>T	ENSP00000495058.1:n.157+68G>T
ENST00000645331.1:n.1320G>T
ENST00000645620.1:c.157+68G>T	ENSP00000493657.1:n.157+68G>T
ENST00000646777.1:n.1130G>T
ENST00000647016.1:n.1366+68G>T
ENST00000647152.1:c.157+68G>T	ENSP00000495893.1:n.157+68G>T
ENST00000647209.1:c.*755+68G>T	ENSP00000495558.1:n.*755+68G>T
ENST00000647346.1:n.1906+68G>T
ENST00000299427.10:c.886+68G>T	ENSP00000299427.6:n.886+68G>T
ENST00000436873.6:c.451-90G>T	ENSP00000398136.2:n.451-90G>T
ENST00000528807.1:n.504G>T
ENST00000533371.5:c.157+68G>T	ENSP00000437066.1:n.157+68G>T
ENST00000611494.4:c.886+68G>T	ENSP00000484546.1:n.886+68G>T
NM_000391.3:c.886+68G>T	NP_000382.3:n.886+68G>T
NM_000391.4:c.886+68G>T MANE Select	NP_000382.3:n.886+68G>T