Canonical Allele Identifier: CA379472701

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636494T>A (hg19) ; chr11:g.6615263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615263T>A , CM000673.2:g.6615263T>A	GRCh38
NC_000011.9:g.6636494T>A , CM000673.1:g.6636494T>A	GRCh37
NC_000011.8:g.6593070T>A	NCBI36
NG_008653.1:g.9199A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1219A>T	ENSP00000507321.1:p.Ser407Cys
ENST00000299427.12:c.1333A>T MANE Select	ENSP00000299427.6:p.Ser445Cys
ENST00000524611.2:n.193A>T
ENST00000524924.2:n.453A>T
ENST00000533371.6:c.604A>T	ENSP00000437066.1:p.Ser202Cys
ENST00000642892.1:c.604A>T	ENSP00000494165.1:p.Ser202Cys
ENST00000643342.1:c.406A>T
ENST00000643439.1:c.*1073A>T	ENSP00000495849.1:n.*1073A>T
ENST00000643479.1:n.1519A>T
ENST00000643516.1:c.842A>T
ENST00000644218.1:c.1144A>T	ENSP00000493574.1:p.Ser382Cys
ENST00000644683.1:c.*786A>T	ENSP00000494085.1:n.*786A>T
ENST00000644810.1:c.1054A>T	ENSP00000495895.1:p.Ser352Cys
ENST00000644831.1:n.1509A>T
ENST00000644933.1:c.*199A>T	ENSP00000496133.1:n.*199A>T
ENST00000645285.1:c.*199A>T	ENSP00000495058.1:n.*199A>T
ENST00000645331.1:n.2538A>T
ENST00000645620.1:c.604A>T	ENSP00000493657.1:p.Ser202Cys
ENST00000646691.1:n.1220A>T
ENST00000646777.1:n.1666A>T
ENST00000647016.1:n.1813A>T
ENST00000647152.1:c.604A>T	ENSP00000495893.1:p.Ser202Cys
ENST00000647209.1:c.*1202A>T	ENSP00000495558.1:n.*1202A>T
ENST00000647346.1:n.2353A>T
ENST00000299427.10:c.1333A>T	ENSP00000299427.6:p.Ser445Cys
ENST00000524611.1:n.211A>T
ENST00000524924.1:n.288A>T
ENST00000532191.1:n.386A>T
ENST00000533371.5:c.604A>T	ENSP00000437066.1:p.Ser202Cys
ENST00000611494.4:c.1333A>T	ENSP00000484546.1:p.Ser445Cys
NM_000391.3:c.1333A>T	NP_000382.3:p.Ser445Cys
NM_000391.4:c.1333A>T MANE Select	NP_000382.3:p.Ser445Cys