Canonical Allele Identifier: CA5859027

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618780T>C , CM000673.2:g.6618780T>C	GRCh38
NC_000011.9:g.6640011T>C , CM000673.1:g.6640011T>C	GRCh37
NC_000011.8:g.6596587T>C	NCBI36
NG_008653.1:g.5682A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.225A>G MANE Select	NP_000382.3:p.Gln75=
ENST00000299427.12:c.225A>G MANE Select	ENSP00000299427.6:p.Gln75=
NM_000391.3:c.225A>G	NP_000382.3:p.Gln75=
ENST00000299427.10:c.225A>G	ENSP00000299427.6:p.Gln75=
ENST00000428886.6:n.247A>G
ENST00000428886.7:n.313A>G
ENST00000436873.6:c.225A>G	ENSP00000398136.2:p.Gln75=
ENST00000436873.7:c.29A>G
ENST00000524788.2:n.238A>G
ENST00000524903.1:n.322A>G
ENST00000524903.2:n.354A>G
ENST00000528571.5:c.89+416A>G	ENSP00000434647.1:n.89+416A>G
ENST00000528571.6:c.89+416A>G	ENSP00000434647.1:n.89+416A>G
ENST00000528657.1:c.*412A>G	ENSP00000435001.1:n.*412A>G
ENST00000528657.2:c.*412A>G	ENSP00000435001.1:n.*412A>G
ENST00000528917.1:n.526A>G
ENST00000530040.1:n.337A>G
ENST00000530040.2:n.254A>G
ENST00000531754.1:n.273A>G
ENST00000531754.2:c.225A>G	ENSP00000493706.1:p.Gln75=
ENST00000533371.5:c.-505A>G	ENSP00000437066.1:n.-505A>G
ENST00000533371.6:c.-505A>G	ENSP00000437066.1:n.-505A>G
ENST00000534644.5:n.214+416A>G
ENST00000534644.6:n.226A>G
ENST00000611494.4:c.225A>G	ENSP00000484546.1:p.Gln75=
ENST00000642892.1:c.-452A>G	ENSP00000494165.1:n.-452A>G
ENST00000643439.1:c.89+416A>G	ENSP00000495849.1:n.89+416A>G
ENST00000643479.1:n.254A>G
ENST00000643516.1:c.112A>G
ENST00000644151.1:n.518A>G
ENST00000644218.1:c.225A>G	ENSP00000493574.1:p.Gln75=
ENST00000644683.1:c.225A>G	ENSP00000494085.1:p.Gln75=
ENST00000644810.1:c.225A>G	ENSP00000495895.1:p.Gln75=
ENST00000644831.1:n.254A>G
ENST00000644933.1:c.-505A>G	ENSP00000496133.1:n.-505A>G
ENST00000645020.1:n.254A>G
ENST00000645285.1:c.-501+416A>G	ENSP00000495058.1:n.-501+416A>G
ENST00000645331.1:n.247A>G
ENST00000645620.1:c.-447A>G	ENSP00000493657.1:n.-447A>G
ENST00000646777.1:n.254A>G
ENST00000647152.1:c.-501+416A>G	ENSP00000495893.1:n.-501+416A>G
ENST00000647209.1:c.*94A>G	ENSP00000495558.1:n.*94A>G
ENST00000647346.1:n.246A>G
ENST00000682424.1:c.111A>G	ENSP00000507321.1:p.Gln37=