Canonical Allele Identifier: CA472922247

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636432T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615201T>C , CM000673.2:g.6615201T>C	GRCh38
NC_000011.9:g.6636432T>C , CM000673.1:g.6636432T>C	GRCh37
NC_000011.8:g.6593008T>C	NCBI36
NG_008653.1:g.9261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1281A>G	ENSP00000507321.1:p.Arg427=
ENST00000299427.12:c.1395A>G MANE Select	ENSP00000299427.6:p.Arg465=
ENST00000524611.2:n.255A>G
ENST00000524924.2:n.515A>G
ENST00000533371.6:c.666A>G	ENSP00000437066.1:p.Arg222=
ENST00000642892.1:c.666A>G	ENSP00000494165.1:p.Arg222=
ENST00000643342.1:c.468A>G
ENST00000643439.1:c.*1135A>G	ENSP00000495849.1:n.*1135A>G
ENST00000643479.1:n.1581A>G
ENST00000643516.1:c.904A>G
ENST00000644218.1:c.1206A>G	ENSP00000493574.1:p.Arg402=
ENST00000644683.1:c.*848A>G	ENSP00000494085.1:n.*848A>G
ENST00000644810.1:c.1116A>G	ENSP00000495895.1:p.Arg372=
ENST00000644831.1:n.1571A>G
ENST00000644933.1:c.*261A>G	ENSP00000496133.1:n.*261A>G
ENST00000645285.1:c.*261A>G	ENSP00000495058.1:n.*261A>G
ENST00000645331.1:n.2600A>G
ENST00000645620.1:c.666A>G	ENSP00000493657.1:p.Arg222=
ENST00000646691.1:n.1282A>G
ENST00000646777.1:n.1728A>G
ENST00000647016.1:n.1875A>G
ENST00000647152.1:c.666A>G	ENSP00000495893.1:p.Arg222=
ENST00000647209.1:c.*1264A>G	ENSP00000495558.1:n.*1264A>G
ENST00000647346.1:n.2415A>G
ENST00000299427.10:c.1395A>G	ENSP00000299427.6:p.Arg465=
ENST00000524611.1:n.273A>G
ENST00000533371.5:c.666A>G	ENSP00000437066.1:p.Arg222=
ENST00000611494.4:c.1395A>G	ENSP00000484546.1:p.Arg465=
NM_000391.3:c.1395A>G	NP_000382.3:p.Arg465=
NM_000391.4:c.1395A>G MANE Select	NP_000382.3:p.Arg465=