Canonical Allele Identifier: CA379475098

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638008A>T (hg19) ; chr11:g.6616777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616777A>T , CM000673.2:g.6616777A>T	GRCh38
NC_000011.9:g.6638008A>T , CM000673.1:g.6638008A>T	GRCh37
NC_000011.8:g.6594584A>T	NCBI36
NG_008653.1:g.7685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.656T>A	ENSP00000507321.1:p.Val219Glu
ENST00000299427.12:c.770T>A MANE Select	ENSP00000299427.6:p.Val257Glu
ENST00000436873.7:c.312+524T>A
ENST00000524788.2:n.1929T>A
ENST00000524903.2:n.2045T>A
ENST00000528807.2:n.426T>A
ENST00000530040.2:n.480-274T>A
ENST00000533371.6:c.41T>A	ENSP00000437066.1:p.Val14Glu
ENST00000642892.1:c.41T>A	ENSP00000494165.1:p.Val14Glu
ENST00000643439.1:c.*510T>A	ENSP00000495849.1:n.*510T>A
ENST00000643479.1:n.799T>A
ENST00000643516.1:c.396-274T>A
ENST00000644151.1:n.2209T>A
ENST00000644218.1:c.770T>A	ENSP00000493574.1:p.Val257Glu
ENST00000644683.1:c.*223T>A	ENSP00000494085.1:n.*223T>A
ENST00000644810.1:c.491T>A	ENSP00000495895.1:p.Val164Glu
ENST00000644831.1:n.946T>A
ENST00000644933.1:c.41T>A	ENSP00000496133.1:p.Val14Glu
ENST00000645020.1:n.2060T>A
ENST00000645285.1:c.41T>A	ENSP00000495058.1:p.Val14Glu
ENST00000645331.1:n.1136T>A
ENST00000645620.1:c.41T>A	ENSP00000493657.1:p.Val14Glu
ENST00000646777.1:n.946T>A
ENST00000647016.1:n.1250T>A
ENST00000647152.1:c.41T>A	ENSP00000495893.1:p.Val14Glu
ENST00000647209.1:c.*639T>A	ENSP00000495558.1:n.*639T>A
ENST00000647346.1:n.1790T>A
ENST00000299427.10:c.770T>A	ENSP00000299427.6:p.Val257Glu
ENST00000436873.6:c.451-274T>A	ENSP00000398136.2:n.451-274T>A
ENST00000524788.1:n.470T>A
ENST00000528807.1:n.320T>A
ENST00000533371.5:c.41T>A	ENSP00000437066.1:p.Val14Glu
ENST00000611494.4:c.770T>A	ENSP00000484546.1:p.Val257Glu
NM_000391.3:c.770T>A	NP_000382.3:p.Val257Glu
NM_000391.4:c.770T>A MANE Select	NP_000382.3:p.Val257Glu