Canonical Allele Identifier: CA379472670

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636479G>C (hg19) ; chr11:g.6615248G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615248G>C , CM000673.2:g.6615248G>C	GRCh38
NC_000011.9:g.6636479G>C , CM000673.1:g.6636479G>C	GRCh37
NC_000011.8:g.6593055G>C	NCBI36
NG_008653.1:g.9214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1234C>G	ENSP00000507321.1:p.Pro412Ala
ENST00000299427.12:c.1348C>G MANE Select	ENSP00000299427.6:p.Pro450Ala
ENST00000524611.2:n.208C>G
ENST00000524924.2:n.468C>G
ENST00000533371.6:c.619C>G	ENSP00000437066.1:p.Pro207Ala
ENST00000642892.1:c.619C>G	ENSP00000494165.1:p.Pro207Ala
ENST00000643342.1:c.421C>G
ENST00000643439.1:c.*1088C>G	ENSP00000495849.1:n.*1088C>G
ENST00000643479.1:n.1534C>G
ENST00000643516.1:c.857C>G
ENST00000644218.1:c.1159C>G	ENSP00000493574.1:p.Pro387Ala
ENST00000644683.1:c.*801C>G	ENSP00000494085.1:n.*801C>G
ENST00000644810.1:c.1069C>G	ENSP00000495895.1:p.Pro357Ala
ENST00000644831.1:n.1524C>G
ENST00000644933.1:c.*214C>G	ENSP00000496133.1:n.*214C>G
ENST00000645285.1:c.*214C>G	ENSP00000495058.1:n.*214C>G
ENST00000645331.1:n.2553C>G
ENST00000645620.1:c.619C>G	ENSP00000493657.1:p.Pro207Ala
ENST00000646691.1:n.1235C>G
ENST00000646777.1:n.1681C>G
ENST00000647016.1:n.1828C>G
ENST00000647152.1:c.619C>G	ENSP00000495893.1:p.Pro207Ala
ENST00000647209.1:c.*1217C>G	ENSP00000495558.1:n.*1217C>G
ENST00000647346.1:n.2368C>G
ENST00000299427.10:c.1348C>G	ENSP00000299427.6:p.Pro450Ala
ENST00000524611.1:n.226C>G
ENST00000532191.1:n.401C>G
ENST00000533371.5:c.619C>G	ENSP00000437066.1:p.Pro207Ala
ENST00000611494.4:c.1348C>G	ENSP00000484546.1:p.Pro450Ala
NM_000391.3:c.1348C>G	NP_000382.3:p.Pro450Ala
NM_000391.4:c.1348C>G MANE Select	NP_000382.3:p.Pro450Ala