Canonical Allele Identifier: CA2612258109

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616606-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616606G>C , CM000673.2:g.6616606G>C	GRCh38
NC_000011.9:g.6637837G>C , CM000673.1:g.6637837G>C	GRCh37
NC_000011.8:g.6594413G>C	NCBI36
NG_008653.1:g.7856C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772+55C>G	ENSP00000507321.1:n.772+55C>G
ENST00000299427.12:c.886+55C>G MANE Select	ENSP00000299427.6:n.886+55C>G
ENST00000436873.7:c.313-532C>G
ENST00000524788.2:n.2100C>G
ENST00000524903.2:n.2216C>G
ENST00000528807.2:n.597C>G
ENST00000530040.2:n.480-103C>G
ENST00000533371.6:c.157+55C>G	ENSP00000437066.1:n.157+55C>G
ENST00000642892.1:c.157+55C>G	ENSP00000494165.1:n.157+55C>G
ENST00000643439.1:c.*626+55C>G	ENSP00000495849.1:n.*626+55C>G
ENST00000643479.1:n.970C>G
ENST00000643516.1:c.396-103C>G
ENST00000644218.1:c.886+55C>G	ENSP00000493574.1:n.886+55C>G
ENST00000644683.1:c.*339+55C>G	ENSP00000494085.1:n.*339+55C>G
ENST00000644810.1:c.607+55C>G	ENSP00000495895.1:n.607+55C>G
ENST00000644831.1:n.1062+55C>G
ENST00000644933.1:c.157+55C>G	ENSP00000496133.1:n.157+55C>G
ENST00000645020.1:n.2231C>G
ENST00000645285.1:c.157+55C>G	ENSP00000495058.1:n.157+55C>G
ENST00000645331.1:n.1307C>G
ENST00000645620.1:c.157+55C>G	ENSP00000493657.1:n.157+55C>G
ENST00000646777.1:n.1117C>G
ENST00000647016.1:n.1366+55C>G
ENST00000647152.1:c.157+55C>G	ENSP00000495893.1:n.157+55C>G
ENST00000647209.1:c.*755+55C>G	ENSP00000495558.1:n.*755+55C>G
ENST00000647346.1:n.1906+55C>G
ENST00000299427.10:c.886+55C>G	ENSP00000299427.6:n.886+55C>G
ENST00000436873.6:c.451-103C>G	ENSP00000398136.2:n.451-103C>G
ENST00000528807.1:n.491C>G
ENST00000533371.5:c.157+55C>G	ENSP00000437066.1:n.157+55C>G
ENST00000611494.4:c.886+55C>G	ENSP00000484546.1:n.886+55C>G
NM_000391.3:c.886+55C>G	NP_000382.3:n.886+55C>G
NM_000391.4:c.886+55C>G MANE Select	NP_000382.3:n.886+55C>G