Canonical Allele Identifier: CA379472865

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636677T>A (hg19) ; chr11:g.6615446T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615446T>A , CM000673.2:g.6615446T>A	GRCh38
NC_000011.9:g.6636677T>A , CM000673.1:g.6636677T>A	GRCh37
NC_000011.8:g.6593253T>A	NCBI36
NG_008653.1:g.9016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1148A>T	ENSP00000507321.1:p.Tyr383Phe
ENST00000299427.12:c.1262A>T MANE Select	ENSP00000299427.6:p.Tyr421Phe
ENST00000436873.7:c.499A>T
ENST00000524611.2:n.10A>T
ENST00000524924.2:n.382A>T
ENST00000533371.6:c.533A>T	ENSP00000437066.1:p.Tyr178Phe
ENST00000642892.1:c.533A>T	ENSP00000494165.1:p.Tyr178Phe
ENST00000643342.1:c.335A>T
ENST00000643439.1:c.*1002A>T	ENSP00000495849.1:n.*1002A>T
ENST00000643479.1:n.1448A>T
ENST00000643516.1:c.771A>T
ENST00000644218.1:c.1073A>T	ENSP00000493574.1:p.Tyr358Phe
ENST00000644683.1:c.*715A>T	ENSP00000494085.1:n.*715A>T
ENST00000644810.1:c.983A>T	ENSP00000495895.1:p.Tyr328Phe
ENST00000644831.1:n.1438A>T
ENST00000644933.1:c.*128A>T	ENSP00000496133.1:n.*128A>T
ENST00000645285.1:c.*128A>T	ENSP00000495058.1:n.*128A>T
ENST00000645331.1:n.2467A>T
ENST00000645620.1:c.533A>T	ENSP00000493657.1:p.Tyr178Phe
ENST00000646691.1:n.1037A>T
ENST00000646777.1:n.1595A>T
ENST00000647016.1:n.1742A>T
ENST00000647152.1:c.533A>T	ENSP00000495893.1:p.Tyr178Phe
ENST00000647209.1:c.*1131A>T	ENSP00000495558.1:n.*1131A>T
ENST00000647346.1:n.2282A>T
ENST00000299427.10:c.1262A>T	ENSP00000299427.6:p.Tyr421Phe
ENST00000524611.1:n.28A>T
ENST00000524924.1:n.217A>T
ENST00000532191.1:n.315A>T
ENST00000533371.5:c.533A>T	ENSP00000437066.1:p.Tyr178Phe
ENST00000611494.4:c.1262A>T	ENSP00000484546.1:p.Tyr421Phe
NM_000391.3:c.1262A>T	NP_000382.3:p.Tyr421Phe
NM_000391.4:c.1262A>T MANE Select	NP_000382.3:p.Tyr421Phe