Canonical Allele Identifier: CA379474878

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637910A>T (hg19) ; chr11:g.6616679A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616679A>T , CM000673.2:g.6616679A>T	GRCh38
NC_000011.9:g.6637910A>T , CM000673.1:g.6637910A>T	GRCh37
NC_000011.8:g.6594486A>T	NCBI36
NG_008653.1:g.7783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.754T>A	ENSP00000507321.1:p.Trp252Arg
ENST00000299427.12:c.868T>A MANE Select	ENSP00000299427.6:p.Trp290Arg
ENST00000436873.7:c.313-605T>A
ENST00000524788.2:n.2027T>A
ENST00000524903.2:n.2143T>A
ENST00000528807.2:n.524T>A
ENST00000530040.2:n.480-176T>A
ENST00000533371.6:c.139T>A	ENSP00000437066.1:p.Trp47Arg
ENST00000642892.1:c.139T>A	ENSP00000494165.1:p.Trp47Arg
ENST00000643439.1:c.*608T>A	ENSP00000495849.1:n.*608T>A
ENST00000643479.1:n.897T>A
ENST00000643516.1:c.396-176T>A
ENST00000644151.1:n.2307T>A
ENST00000644218.1:c.868T>A	ENSP00000493574.1:p.Trp290Arg
ENST00000644683.1:c.*321T>A	ENSP00000494085.1:n.*321T>A
ENST00000644810.1:c.589T>A	ENSP00000495895.1:p.Trp197Arg
ENST00000644831.1:n.1044T>A
ENST00000644933.1:c.139T>A	ENSP00000496133.1:p.Trp47Arg
ENST00000645020.1:n.2158T>A
ENST00000645285.1:c.139T>A	ENSP00000495058.1:p.Trp47Arg
ENST00000645331.1:n.1234T>A
ENST00000645620.1:c.139T>A	ENSP00000493657.1:p.Trp47Arg
ENST00000646777.1:n.1044T>A
ENST00000647016.1:n.1348T>A
ENST00000647152.1:c.139T>A	ENSP00000495893.1:p.Trp47Arg
ENST00000647209.1:c.*737T>A	ENSP00000495558.1:n.*737T>A
ENST00000647346.1:n.1888T>A
ENST00000299427.10:c.868T>A	ENSP00000299427.6:p.Trp290Arg
ENST00000436873.6:c.451-176T>A	ENSP00000398136.2:n.451-176T>A
ENST00000528807.1:n.418T>A
ENST00000533371.5:c.139T>A	ENSP00000437066.1:p.Trp47Arg
ENST00000611494.4:c.868T>A	ENSP00000484546.1:p.Trp290Arg
NM_000391.3:c.868T>A	NP_000382.3:p.Trp290Arg
NM_000391.4:c.868T>A MANE Select	NP_000382.3:p.Trp290Arg