Canonical Allele Identifier: CA379475806

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638577G>A (hg19) ; chr11:g.6617346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617346G>A , CM000673.2:g.6617346G>A	GRCh38
NC_000011.9:g.6638577G>A , CM000673.1:g.6638577G>A	GRCh37
NC_000011.8:g.6595153G>A	NCBI36
NG_008653.1:g.7116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.349C>T	ENSP00000507321.1:p.His117Tyr
ENST00000299427.12:c.463C>T MANE Select	ENSP00000299427.6:p.His155Tyr
ENST00000428886.7:n.551C>T
ENST00000436873.7:c.267C>T
ENST00000524788.2:n.1475C>T
ENST00000524903.2:n.1591C>T
ENST00000528571.6:c.*203C>T	ENSP00000434647.1:n.*203C>T
ENST00000528807.2:n.119C>T
ENST00000530040.2:n.479+13C>T
ENST00000533371.6:c.-267C>T	ENSP00000437066.1:n.-267C>T
ENST00000534644.6:n.456+8C>T
ENST00000642892.1:c.-222+8C>T	ENSP00000494165.1:n.-222+8C>T
ENST00000643439.1:c.*203C>T	ENSP00000495849.1:n.*203C>T
ENST00000643479.1:n.492C>T
ENST00000643516.1:c.350C>T
ENST00000644151.1:n.1755C>T
ENST00000644218.1:c.463C>T	ENSP00000493574.1:p.His155Tyr
ENST00000644683.1:c.450+13C>T	ENSP00000494085.1:n.450+13C>T
ENST00000644810.1:c.230-193C>T	ENSP00000495895.1:n.230-193C>T
ENST00000644831.1:n.492C>T
ENST00000644933.1:c.-267C>T	ENSP00000496133.1:n.-267C>T
ENST00000645020.1:n.1491C>T
ENST00000645285.1:c.-267C>T	ENSP00000495058.1:n.-267C>T
ENST00000645331.1:n.682C>T
ENST00000645620.1:c.-222+13C>T	ENSP00000493657.1:n.-222+13C>T
ENST00000646777.1:n.492C>T
ENST00000647016.1:n.796C>T
ENST00000647152.1:c.-267C>T	ENSP00000495893.1:n.-267C>T
ENST00000647209.1:c.*332C>T	ENSP00000495558.1:n.*332C>T
ENST00000647346.1:n.1483C>T
ENST00000299427.10:c.463C>T	ENSP00000299427.6:p.His155Tyr
ENST00000428886.6:n.485C>T
ENST00000436873.6:c.450+13C>T	ENSP00000398136.2:n.450+13C>T
ENST00000524788.1:n.16C>T
ENST00000528571.5:c.*203C>T	ENSP00000434647.1:n.*203C>T
ENST00000533371.5:c.-267C>T	ENSP00000437066.1:n.-267C>T
ENST00000534644.5:n.448C>T
ENST00000611494.4:c.463C>T	ENSP00000484546.1:p.His155Tyr
NM_000391.3:c.463C>T	NP_000382.3:p.His155Tyr
NM_000391.4:c.463C>T MANE Select	NP_000382.3:p.His155Tyr