Canonical Allele Identifier: CA2790314267

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616195C>A , CM000673.2:g.6616195C>A	GRCh38
NC_000011.9:g.6637426C>A , CM000673.1:g.6637426C>A	GRCh37
NC_000011.8:g.6594002C>A	NCBI36
NG_008653.1:g.8267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.962-121G>T	ENSP00000507321.1:n.962-121G>T
ENST00000299427.12:c.1076-121G>T MANE Select	ENSP00000299427.6:n.1076-121G>T
ENST00000436873.7:c.313-121G>T
ENST00000524924.2:n.75G>T
ENST00000533371.6:c.347-121G>T	ENSP00000437066.1:n.347-121G>T
ENST00000642892.1:c.347-121G>T	ENSP00000494165.1:n.347-121G>T
ENST00000643342.1:c.166-121G>T
ENST00000643439.1:c.*816-121G>T	ENSP00000495849.1:n.*816-121G>T
ENST00000643479.1:n.1262-121G>T
ENST00000643516.1:c.585-121G>T
ENST00000644218.1:c.887-121G>T	ENSP00000493574.1:n.887-121G>T
ENST00000644683.1:c.*529-121G>T	ENSP00000494085.1:n.*529-121G>T
ENST00000644810.1:c.797-121G>T	ENSP00000495895.1:n.797-121G>T
ENST00000644831.1:n.1252-121G>T
ENST00000644933.1:c.347-121G>T	ENSP00000496133.1:n.347-121G>T
ENST00000645285.1:c.158-121G>T	ENSP00000495058.1:n.158-121G>T
ENST00000645331.1:n.1718G>T
ENST00000645620.1:c.347-121G>T	ENSP00000493657.1:n.347-121G>T
ENST00000646691.1:n.288G>T
ENST00000646777.1:n.1409-121G>T
ENST00000647016.1:n.1556-121G>T
ENST00000647152.1:c.347-121G>T	ENSP00000495893.1:n.347-121G>T
ENST00000647209.1:c.*945-121G>T	ENSP00000495558.1:n.*945-121G>T
ENST00000647346.1:n.2096-121G>T
ENST00000299427.10:c.1076-121G>T	ENSP00000299427.6:n.1076-121G>T
ENST00000533371.5:c.347-121G>T	ENSP00000437066.1:n.347-121G>T
ENST00000611494.4:c.1076-121G>T	ENSP00000484546.1:n.1076-121G>T
NM_000391.3:c.1076-121G>T	NP_000382.3:n.1076-121G>T
NM_000391.4:c.1076-121G>T MANE Select	NP_000382.3:n.1076-121G>T