Canonical Allele Identifier: CA379475051

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637982G>C (hg19) ; chr11:g.6616751G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616751G>C , CM000673.2:g.6616751G>C	GRCh38
NC_000011.9:g.6637982G>C , CM000673.1:g.6637982G>C	GRCh37
NC_000011.8:g.6594558G>C	NCBI36
NG_008653.1:g.7711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.682C>G	ENSP00000507321.1:p.Arg228Gly
ENST00000299427.12:c.796C>G MANE Select	ENSP00000299427.6:p.Arg266Gly
ENST00000436873.7:c.312+550C>G
ENST00000524788.2:n.1955C>G
ENST00000524903.2:n.2071C>G
ENST00000528807.2:n.452C>G
ENST00000530040.2:n.480-248C>G
ENST00000533371.6:c.67C>G	ENSP00000437066.1:p.Arg23Gly
ENST00000642892.1:c.67C>G	ENSP00000494165.1:p.Arg23Gly
ENST00000643439.1:c.*536C>G	ENSP00000495849.1:n.*536C>G
ENST00000643479.1:n.825C>G
ENST00000643516.1:c.396-248C>G
ENST00000644151.1:n.2235C>G
ENST00000644218.1:c.796C>G	ENSP00000493574.1:p.Arg266Gly
ENST00000644683.1:c.*249C>G	ENSP00000494085.1:n.*249C>G
ENST00000644810.1:c.517C>G	ENSP00000495895.1:p.Arg173Gly
ENST00000644831.1:n.972C>G
ENST00000644933.1:c.67C>G	ENSP00000496133.1:p.Arg23Gly
ENST00000645020.1:n.2086C>G
ENST00000645285.1:c.67C>G	ENSP00000495058.1:p.Arg23Gly
ENST00000645331.1:n.1162C>G
ENST00000645620.1:c.67C>G	ENSP00000493657.1:p.Arg23Gly
ENST00000646777.1:n.972C>G
ENST00000647016.1:n.1276C>G
ENST00000647152.1:c.67C>G	ENSP00000495893.1:p.Arg23Gly
ENST00000647209.1:c.*665C>G	ENSP00000495558.1:n.*665C>G
ENST00000647346.1:n.1816C>G
ENST00000299427.10:c.796C>G	ENSP00000299427.6:p.Arg266Gly
ENST00000436873.6:c.451-248C>G	ENSP00000398136.2:n.451-248C>G
ENST00000524788.1:n.496C>G
ENST00000528807.1:n.346C>G
ENST00000533371.5:c.67C>G	ENSP00000437066.1:p.Arg23Gly
ENST00000611494.4:c.796C>G	ENSP00000484546.1:p.Arg266Gly
NM_000391.3:c.796C>G	NP_000382.3:p.Arg266Gly
NM_000391.4:c.796C>G MANE Select	NP_000382.3:p.Arg266Gly