Canonical Allele Identifier: CA379474161

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616378G>C , CM000673.2:g.6616378G>C	GRCh38
NC_000011.9:g.6637609G>C , CM000673.1:g.6637609G>C	GRCh37
NC_000011.8:g.6594185G>C	NCBI36
NG_008653.1:g.8084C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1012C>G MANE Select	NP_000382.3:p.Gln338Glu
ENST00000299427.12:c.1012C>G MANE Select	ENSP00000299427.6:p.Gln338Glu
NM_000391.3:c.1012C>G	NP_000382.3:p.Gln338Glu
ENST00000299427.10:c.1012C>G	ENSP00000299427.6:p.Gln338Glu
ENST00000436873.7:c.313-304C>G
ENST00000533371.5:c.283C>G	ENSP00000437066.1:p.Gln95Glu
ENST00000533371.6:c.283C>G	ENSP00000437066.1:p.Gln95Glu
ENST00000611494.4:c.1012C>G	ENSP00000484546.1:p.Gln338Glu
ENST00000642892.1:c.283C>G	ENSP00000494165.1:p.Gln95Glu
ENST00000643342.1:c.102C>G
ENST00000643439.1:c.*752C>G	ENSP00000495849.1:n.*752C>G
ENST00000643479.1:n.1198C>G
ENST00000643516.1:c.521C>G
ENST00000644218.1:c.886+283C>G	ENSP00000493574.1:n.886+283C>G
ENST00000644683.1:c.*465C>G	ENSP00000494085.1:n.*465C>G
ENST00000644810.1:c.733C>G	ENSP00000495895.1:p.Gln245Glu
ENST00000644831.1:n.1188C>G
ENST00000644933.1:c.283C>G	ENSP00000496133.1:p.Gln95Glu
ENST00000645285.1:c.157+283C>G	ENSP00000495058.1:n.157+283C>G
ENST00000645331.1:n.1535C>G
ENST00000645620.1:c.283C>G	ENSP00000493657.1:p.Gln95Glu
ENST00000646691.1:n.105C>G
ENST00000646777.1:n.1345C>G
ENST00000647016.1:n.1492C>G
ENST00000647152.1:c.283C>G	ENSP00000495893.1:p.Gln95Glu
ENST00000647209.1:c.*881C>G	ENSP00000495558.1:n.*881C>G
ENST00000647346.1:n.2032C>G
ENST00000682424.1:c.898C>G	ENSP00000507321.1:p.Gln300Glu