Canonical Allele Identifier: CA379475068

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637990T>C (hg19) ; chr11:g.6616759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616759T>C , CM000673.2:g.6616759T>C	GRCh38
NC_000011.9:g.6637990T>C , CM000673.1:g.6637990T>C	GRCh37
NC_000011.8:g.6594566T>C	NCBI36
NG_008653.1:g.7703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.674A>G	ENSP00000507321.1:p.Gln225Arg
ENST00000299427.12:c.788A>G MANE Select	ENSP00000299427.6:p.Gln263Arg
ENST00000436873.7:c.312+542A>G
ENST00000524788.2:n.1947A>G
ENST00000524903.2:n.2063A>G
ENST00000528807.2:n.444A>G
ENST00000530040.2:n.480-256A>G
ENST00000533371.6:c.59A>G	ENSP00000437066.1:p.Gln20Arg
ENST00000642892.1:c.59A>G	ENSP00000494165.1:p.Gln20Arg
ENST00000643439.1:c.*528A>G	ENSP00000495849.1:n.*528A>G
ENST00000643479.1:n.817A>G
ENST00000643516.1:c.396-256A>G
ENST00000644151.1:n.2227A>G
ENST00000644218.1:c.788A>G	ENSP00000493574.1:p.Gln263Arg
ENST00000644683.1:c.*241A>G	ENSP00000494085.1:n.*241A>G
ENST00000644810.1:c.509A>G	ENSP00000495895.1:p.Gln170Arg
ENST00000644831.1:n.964A>G
ENST00000644933.1:c.59A>G	ENSP00000496133.1:p.Gln20Arg
ENST00000645020.1:n.2078A>G
ENST00000645285.1:c.59A>G	ENSP00000495058.1:p.Gln20Arg
ENST00000645331.1:n.1154A>G
ENST00000645620.1:c.59A>G	ENSP00000493657.1:p.Gln20Arg
ENST00000646777.1:n.964A>G
ENST00000647016.1:n.1268A>G
ENST00000647152.1:c.59A>G	ENSP00000495893.1:p.Gln20Arg
ENST00000647209.1:c.*657A>G	ENSP00000495558.1:n.*657A>G
ENST00000647346.1:n.1808A>G
ENST00000299427.10:c.788A>G	ENSP00000299427.6:p.Gln263Arg
ENST00000436873.6:c.451-256A>G	ENSP00000398136.2:n.451-256A>G
ENST00000524788.1:n.488A>G
ENST00000528807.1:n.338A>G
ENST00000533371.5:c.59A>G	ENSP00000437066.1:p.Gln20Arg
ENST00000611494.4:c.788A>G	ENSP00000484546.1:p.Gln263Arg
NM_000391.3:c.788A>G	NP_000382.3:p.Gln263Arg
NM_000391.4:c.788A>G MANE Select	NP_000382.3:p.Gln263Arg