Canonical Allele Identifier: CA379475432

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638267T>A (hg19) ; chr11:g.6617036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617036T>A , CM000673.2:g.6617036T>A	GRCh38
NC_000011.9:g.6638267T>A , CM000673.1:g.6638267T>A	GRCh37
NC_000011.8:g.6594843T>A	NCBI36
NG_008653.1:g.7426A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.512A>T	ENSP00000507321.1:p.Tyr171Phe
ENST00000299427.12:c.626A>T MANE Select	ENSP00000299427.6:p.Tyr209Phe
ENST00000436873.7:c.312+265A>T
ENST00000524788.2:n.1785A>T
ENST00000524903.2:n.1901A>T
ENST00000528807.2:n.282A>T
ENST00000530040.2:n.479+323A>T
ENST00000533371.6:c.-104A>T	ENSP00000437066.1:n.-104A>T
ENST00000534644.6:n.574A>T
ENST00000642892.1:c.-104A>T	ENSP00000494165.1:n.-104A>T
ENST00000643439.1:c.*366A>T	ENSP00000495849.1:n.*366A>T
ENST00000643479.1:n.655A>T
ENST00000643516.1:c.395+265A>T
ENST00000644151.1:n.2065A>T
ENST00000644218.1:c.626A>T	ENSP00000493574.1:p.Tyr209Phe
ENST00000644683.1:c.*79A>T	ENSP00000494085.1:n.*79A>T
ENST00000644810.1:c.347A>T	ENSP00000495895.1:p.Tyr116Phe
ENST00000644831.1:n.802A>T
ENST00000644933.1:c.-104A>T	ENSP00000496133.1:n.-104A>T
ENST00000645020.1:n.1801A>T
ENST00000645285.1:c.-104A>T	ENSP00000495058.1:n.-104A>T
ENST00000645331.1:n.992A>T
ENST00000645620.1:c.-104A>T	ENSP00000493657.1:n.-104A>T
ENST00000646777.1:n.802A>T
ENST00000647016.1:n.1106A>T
ENST00000647152.1:c.-104A>T	ENSP00000495893.1:n.-104A>T
ENST00000647209.1:c.*495A>T	ENSP00000495558.1:n.*495A>T
ENST00000647346.1:n.1646A>T
ENST00000299427.10:c.626A>T	ENSP00000299427.6:p.Tyr209Phe
ENST00000428886.6:n.795A>T
ENST00000436873.6:c.450+323A>T	ENSP00000398136.2:n.450+323A>T
ENST00000524788.1:n.326A>T
ENST00000528571.5:c.*366A>T	ENSP00000434647.1:n.*366A>T
ENST00000528807.1:n.176A>T
ENST00000533371.5:c.-104A>T	ENSP00000437066.1:n.-104A>T
ENST00000534644.5:n.611A>T
ENST00000611494.4:c.626A>T	ENSP00000484546.1:p.Tyr209Phe
NM_000391.3:c.626A>T	NP_000382.3:p.Tyr209Phe
NM_000391.4:c.626A>T MANE Select	NP_000382.3:p.Tyr209Phe