Canonical Allele Identifier: CA472922648

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637899A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616668A>G , CM000673.2:g.6616668A>G	GRCh38
NC_000011.9:g.6637899A>G , CM000673.1:g.6637899A>G	GRCh37
NC_000011.8:g.6594475A>G	NCBI36
NG_008653.1:g.7794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.765T>C	ENSP00000507321.1:p.Ser255=
ENST00000299427.12:c.879T>C MANE Select	ENSP00000299427.6:p.Ser293=
ENST00000436873.7:c.313-594T>C
ENST00000524788.2:n.2038T>C
ENST00000524903.2:n.2154T>C
ENST00000528807.2:n.535T>C
ENST00000530040.2:n.480-165T>C
ENST00000533371.6:c.150T>C	ENSP00000437066.1:p.Ser50=
ENST00000642892.1:c.150T>C	ENSP00000494165.1:p.Ser50=
ENST00000643439.1:c.*619T>C	ENSP00000495849.1:n.*619T>C
ENST00000643479.1:n.908T>C
ENST00000643516.1:c.396-165T>C
ENST00000644151.1:n.2318T>C
ENST00000644218.1:c.879T>C	ENSP00000493574.1:p.Ser293=
ENST00000644683.1:c.*332T>C	ENSP00000494085.1:n.*332T>C
ENST00000644810.1:c.600T>C	ENSP00000495895.1:p.Ser200=
ENST00000644831.1:n.1055T>C
ENST00000644933.1:c.150T>C	ENSP00000496133.1:p.Ser50=
ENST00000645020.1:n.2169T>C
ENST00000645285.1:c.150T>C	ENSP00000495058.1:p.Ser50=
ENST00000645331.1:n.1245T>C
ENST00000645620.1:c.150T>C	ENSP00000493657.1:p.Ser50=
ENST00000646777.1:n.1055T>C
ENST00000647016.1:n.1359T>C
ENST00000647152.1:c.150T>C	ENSP00000495893.1:p.Ser50=
ENST00000647209.1:c.*748T>C	ENSP00000495558.1:n.*748T>C
ENST00000647346.1:n.1899T>C
ENST00000299427.10:c.879T>C	ENSP00000299427.6:p.Ser293=
ENST00000436873.6:c.451-165T>C	ENSP00000398136.2:n.451-165T>C
ENST00000528807.1:n.429T>C
ENST00000533371.5:c.150T>C	ENSP00000437066.1:p.Ser50=
ENST00000611494.4:c.879T>C	ENSP00000484546.1:p.Ser293=
NM_000391.3:c.879T>C	NP_000382.3:p.Ser293=
NM_000391.4:c.879T>C MANE Select	NP_000382.3:p.Ser293=