Canonical Allele Identifier: CA379473027

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636746A>C (hg19) ; chr11:g.6615515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615515A>C , CM000673.2:g.6615515A>C	GRCh38
NC_000011.9:g.6636746A>C , CM000673.1:g.6636746A>C	GRCh37
NC_000011.8:g.6593322A>C	NCBI36
NG_008653.1:g.8947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1079T>G	ENSP00000507321.1:p.Leu360Arg
ENST00000299427.12:c.1193T>G MANE Select	ENSP00000299427.6:p.Leu398Arg
ENST00000436873.7:c.430T>G
ENST00000524924.2:n.313T>G
ENST00000533371.6:c.464T>G	ENSP00000437066.1:p.Leu155Arg
ENST00000642892.1:c.464T>G	ENSP00000494165.1:p.Leu155Arg
ENST00000643342.1:c.266T>G
ENST00000643439.1:c.*933T>G	ENSP00000495849.1:n.*933T>G
ENST00000643479.1:n.1379T>G
ENST00000643516.1:c.702T>G
ENST00000644218.1:c.1004T>G	ENSP00000493574.1:p.Leu335Arg
ENST00000644683.1:c.*646T>G	ENSP00000494085.1:n.*646T>G
ENST00000644810.1:c.914T>G	ENSP00000495895.1:p.Leu305Arg
ENST00000644831.1:n.1369T>G
ENST00000644933.1:c.*59T>G	ENSP00000496133.1:n.*59T>G
ENST00000645285.1:c.*59T>G	ENSP00000495058.1:n.*59T>G
ENST00000645331.1:n.2398T>G
ENST00000645620.1:c.464T>G	ENSP00000493657.1:p.Leu155Arg
ENST00000646691.1:n.968T>G
ENST00000646777.1:n.1526T>G
ENST00000647016.1:n.1673T>G
ENST00000647152.1:c.464T>G	ENSP00000495893.1:p.Leu155Arg
ENST00000647209.1:c.*1062T>G	ENSP00000495558.1:n.*1062T>G
ENST00000647346.1:n.2213T>G
ENST00000299427.10:c.1193T>G	ENSP00000299427.6:p.Leu398Arg
ENST00000524924.1:n.148T>G
ENST00000532191.1:n.246T>G
ENST00000533371.5:c.464T>G	ENSP00000437066.1:p.Leu155Arg
ENST00000611494.4:c.1193T>G	ENSP00000484546.1:p.Leu398Arg
NM_000391.3:c.1193T>G	NP_000382.3:p.Leu398Arg
NM_000391.4:c.1193T>G MANE Select	NP_000382.3:p.Leu398Arg