Canonical Allele Identifier: CA2612258065

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616522-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616522T>C , CM000673.2:g.6616522T>C	GRCh38
NC_000011.9:g.6637753T>C , CM000673.1:g.6637753T>C	GRCh37
NC_000011.8:g.6594329T>C	NCBI36
NG_008653.1:g.7940A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-19A>G	ENSP00000507321.1:n.773-19A>G
ENST00000299427.12:c.887-19A>G MANE Select	ENSP00000299427.6:n.887-19A>G
ENST00000436873.7:c.313-448A>G
ENST00000524903.2:n.2300A>G
ENST00000530040.2:n.480-19A>G
ENST00000533371.6:c.158-19A>G	ENSP00000437066.1:n.158-19A>G
ENST00000642892.1:c.158-19A>G	ENSP00000494165.1:n.158-19A>G
ENST00000643439.1:c.*627-19A>G	ENSP00000495849.1:n.*627-19A>G
ENST00000643479.1:n.1054A>G
ENST00000643516.1:c.396-19A>G
ENST00000644218.1:c.886+139A>G	ENSP00000493574.1:n.886+139A>G
ENST00000644683.1:c.*340-19A>G	ENSP00000494085.1:n.*340-19A>G
ENST00000644810.1:c.608-19A>G	ENSP00000495895.1:n.608-19A>G
ENST00000644831.1:n.1063-19A>G
ENST00000644933.1:c.158-19A>G	ENSP00000496133.1:n.158-19A>G
ENST00000645285.1:c.157+139A>G	ENSP00000495058.1:n.157+139A>G
ENST00000645331.1:n.1391A>G
ENST00000645620.1:c.158-19A>G	ENSP00000493657.1:n.158-19A>G
ENST00000646777.1:n.1201A>G
ENST00000647016.1:n.1367-19A>G
ENST00000647152.1:c.158-19A>G	ENSP00000495893.1:n.158-19A>G
ENST00000647209.1:c.*756-19A>G	ENSP00000495558.1:n.*756-19A>G
ENST00000647346.1:n.1907-19A>G
ENST00000299427.10:c.887-19A>G	ENSP00000299427.6:n.887-19A>G
ENST00000436873.6:c.451-19A>G	ENSP00000398136.2:n.451-19A>G
ENST00000528807.1:n.575A>G
ENST00000533371.5:c.158-19A>G	ENSP00000437066.1:n.158-19A>G
ENST00000611494.4:c.887-19A>G	ENSP00000484546.1:n.887-19A>G
NM_000391.3:c.887-19A>G	NP_000382.3:n.887-19A>G
NM_000391.4:c.887-19A>G MANE Select	NP_000382.3:n.887-19A>G