Canonical Allele Identifier: CA472768965

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635789T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614558T>C , CM000673.2:g.6614558T>C	GRCh38
NC_000011.9:g.6635789T>C , CM000673.1:g.6635789T>C	GRCh37
NC_000011.8:g.6592365T>C	NCBI36
NG_008653.1:g.9904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1566A>G	ENSP00000507321.1:p.Leu522=
ENST00000299427.12:c.1680A>G MANE Select	ENSP00000299427.6:p.Leu560=
ENST00000524611.2:n.719A>G
ENST00000533371.6:c.951A>G	ENSP00000437066.1:p.Leu317=
ENST00000642892.1:c.951A>G	ENSP00000494165.1:p.Leu317=
ENST00000643342.1:c.753A>G
ENST00000643439.1:c.*1420A>G	ENSP00000495849.1:n.*1420A>G
ENST00000643479.1:n.1866A>G
ENST00000643516.1:c.1189A>G
ENST00000644218.1:c.1491A>G	ENSP00000493574.1:p.Leu497=
ENST00000644683.1:c.*1133A>G	ENSP00000494085.1:n.*1133A>G
ENST00000644810.1:c.1401A>G	ENSP00000495895.1:p.Leu467=
ENST00000644831.1:n.1856A>G
ENST00000644933.1:c.*546A>G	ENSP00000496133.1:n.*546A>G
ENST00000645285.1:c.*546A>G	ENSP00000495058.1:n.*546A>G
ENST00000645331.1:n.2885A>G
ENST00000645620.1:c.951A>G	ENSP00000493657.1:p.Leu317=
ENST00000646691.1:n.1567A>G
ENST00000646777.1:n.2013A>G
ENST00000647016.1:n.2160A>G
ENST00000647152.1:c.951A>G	ENSP00000495893.1:p.Leu317=
ENST00000647209.1:c.*1549A>G	ENSP00000495558.1:n.*1549A>G
ENST00000647346.1:n.2700A>G
ENST00000299427.10:c.1680A>G	ENSP00000299427.6:p.Leu560=
ENST00000533371.5:c.951A>G	ENSP00000437066.1:p.Leu317=
ENST00000611494.4:c.*8A>G	ENSP00000484546.1:n.*8A>G
NM_000391.3:c.1680A>G	NP_000382.3:p.Leu560=
NM_000391.4:c.1680A>G MANE Select	NP_000382.3:p.Leu560=