Canonical Allele Identifier: CA379475006

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637956A>T (hg19) ; chr11:g.6616725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616725A>T , CM000673.2:g.6616725A>T	GRCh38
NC_000011.9:g.6637956A>T , CM000673.1:g.6637956A>T	GRCh37
NC_000011.8:g.6594532A>T	NCBI36
NG_008653.1:g.7737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.708T>A	ENSP00000507321.1:p.Ser236Arg
ENST00000299427.12:c.822T>A MANE Select	ENSP00000299427.6:p.Ser274Arg
ENST00000436873.7:c.312+576T>A
ENST00000524788.2:n.1981T>A
ENST00000524903.2:n.2097T>A
ENST00000528807.2:n.478T>A
ENST00000530040.2:n.480-222T>A
ENST00000533371.6:c.93T>A	ENSP00000437066.1:p.Ser31Arg
ENST00000642892.1:c.93T>A	ENSP00000494165.1:p.Ser31Arg
ENST00000643439.1:c.*562T>A	ENSP00000495849.1:n.*562T>A
ENST00000643479.1:n.851T>A
ENST00000643516.1:c.396-222T>A
ENST00000644151.1:n.2261T>A
ENST00000644218.1:c.822T>A	ENSP00000493574.1:p.Ser274Arg
ENST00000644683.1:c.*275T>A	ENSP00000494085.1:n.*275T>A
ENST00000644810.1:c.543T>A	ENSP00000495895.1:p.Ser181Arg
ENST00000644831.1:n.998T>A
ENST00000644933.1:c.93T>A	ENSP00000496133.1:p.Ser31Arg
ENST00000645020.1:n.2112T>A
ENST00000645285.1:c.93T>A	ENSP00000495058.1:p.Ser31Arg
ENST00000645331.1:n.1188T>A
ENST00000645620.1:c.93T>A	ENSP00000493657.1:p.Ser31Arg
ENST00000646777.1:n.998T>A
ENST00000647016.1:n.1302T>A
ENST00000647152.1:c.93T>A	ENSP00000495893.1:p.Ser31Arg
ENST00000647209.1:c.*691T>A	ENSP00000495558.1:n.*691T>A
ENST00000647346.1:n.1842T>A
ENST00000299427.10:c.822T>A	ENSP00000299427.6:p.Ser274Arg
ENST00000436873.6:c.451-222T>A	ENSP00000398136.2:n.451-222T>A
ENST00000524788.1:n.522T>A
ENST00000528807.1:n.372T>A
ENST00000533371.5:c.93T>A	ENSP00000437066.1:p.Ser31Arg
ENST00000611494.4:c.822T>A	ENSP00000484546.1:p.Ser274Arg
NM_000391.3:c.822T>A	NP_000382.3:p.Ser274Arg
NM_000391.4:c.822T>A MANE Select	NP_000382.3:p.Ser274Arg