Canonical Allele Identifier: CA379475329

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638219T>A (hg19) ; chr11:g.6616988T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616988T>A , CM000673.2:g.6616988T>A	GRCh38
NC_000011.9:g.6638219T>A , CM000673.1:g.6638219T>A	GRCh37
NC_000011.8:g.6594795T>A	NCBI36
NG_008653.1:g.7474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.560A>T	ENSP00000507321.1:p.Gln187Leu
ENST00000299427.12:c.674A>T MANE Select	ENSP00000299427.6:p.Gln225Leu
ENST00000436873.7:c.312+313A>T
ENST00000524788.2:n.1833A>T
ENST00000524903.2:n.1949A>T
ENST00000528807.2:n.330A>T
ENST00000530040.2:n.479+371A>T
ENST00000533371.6:c.-56A>T	ENSP00000437066.1:n.-56A>T
ENST00000534644.6:n.622A>T
ENST00000642892.1:c.-56A>T	ENSP00000494165.1:n.-56A>T
ENST00000643439.1:c.*414A>T	ENSP00000495849.1:n.*414A>T
ENST00000643479.1:n.703A>T
ENST00000643516.1:c.395+313A>T
ENST00000644151.1:n.2113A>T
ENST00000644218.1:c.674A>T	ENSP00000493574.1:p.Gln225Leu
ENST00000644683.1:c.*127A>T	ENSP00000494085.1:n.*127A>T
ENST00000644810.1:c.395A>T	ENSP00000495895.1:p.Gln132Leu
ENST00000644831.1:n.850A>T
ENST00000644933.1:c.-56A>T	ENSP00000496133.1:n.-56A>T
ENST00000645020.1:n.1849A>T
ENST00000645285.1:c.-56A>T	ENSP00000495058.1:n.-56A>T
ENST00000645331.1:n.1040A>T
ENST00000645620.1:c.-56A>T	ENSP00000493657.1:n.-56A>T
ENST00000646777.1:n.850A>T
ENST00000647016.1:n.1154A>T
ENST00000647152.1:c.-56A>T	ENSP00000495893.1:n.-56A>T
ENST00000647209.1:c.*543A>T	ENSP00000495558.1:n.*543A>T
ENST00000647346.1:n.1694A>T
ENST00000299427.10:c.674A>T	ENSP00000299427.6:p.Gln225Leu
ENST00000436873.6:c.450+371A>T	ENSP00000398136.2:n.450+371A>T
ENST00000524788.1:n.374A>T
ENST00000528571.5:c.*414A>T	ENSP00000434647.1:n.*414A>T
ENST00000528807.1:n.224A>T
ENST00000533371.5:c.-56A>T	ENSP00000437066.1:n.-56A>T
ENST00000611494.4:c.674A>T	ENSP00000484546.1:p.Gln225Leu
NM_000391.3:c.674A>T	NP_000382.3:p.Gln225Leu
NM_000391.4:c.674A>T MANE Select	NP_000382.3:p.Gln225Leu