Canonical Allele Identifier: CA379473841

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616057A>T , CM000673.2:g.6616057A>T	GRCh38
NC_000011.9:g.6637288A>T , CM000673.1:g.6637288A>T	GRCh37
NC_000011.8:g.6593864A>T	NCBI36
NG_008653.1:g.8405T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.979T>A	ENSP00000507321.1:p.Cys327Ser
ENST00000299427.12:c.1093T>A MANE Select	ENSP00000299427.6:p.Cys365Ser
ENST00000436873.7:c.330T>A
ENST00000524924.2:n.213T>A
ENST00000533371.6:c.364T>A	ENSP00000437066.1:p.Cys122Ser
ENST00000642892.1:c.364T>A	ENSP00000494165.1:p.Cys122Ser
ENST00000643342.1:c.183T>A
ENST00000643439.1:c.*833T>A	ENSP00000495849.1:n.*833T>A
ENST00000643479.1:n.1279T>A
ENST00000643516.1:c.602T>A
ENST00000644218.1:c.904T>A	ENSP00000493574.1:p.Cys302Ser
ENST00000644683.1:c.*546T>A	ENSP00000494085.1:n.*546T>A
ENST00000644810.1:c.814T>A	ENSP00000495895.1:p.Cys272Ser
ENST00000644831.1:n.1269T>A
ENST00000644933.1:c.364T>A	ENSP00000496133.1:p.Cys122Ser
ENST00000645285.1:c.175T>A	ENSP00000495058.1:p.Cys59Ser
ENST00000645331.1:n.1856T>A
ENST00000645620.1:c.364T>A	ENSP00000493657.1:p.Cys122Ser
ENST00000646691.1:n.426T>A
ENST00000646777.1:n.1426T>A
ENST00000647016.1:n.1573T>A
ENST00000647152.1:c.364T>A	ENSP00000495893.1:p.Cys122Ser
ENST00000647209.1:c.*962T>A	ENSP00000495558.1:n.*962T>A
ENST00000647346.1:n.2113T>A
ENST00000299427.10:c.1093T>A	ENSP00000299427.6:p.Cys365Ser
ENST00000524924.1:n.48T>A
ENST00000533371.5:c.364T>A	ENSP00000437066.1:p.Cys122Ser
ENST00000611494.4:c.1093T>A	ENSP00000484546.1:p.Cys365Ser
NM_000391.3:c.1093T>A	NP_000382.3:p.Cys365Ser
NM_000391.4:c.1093T>A MANE Select	NP_000382.3:p.Cys365Ser