Canonical Allele Identifier: CA379472014

Gene: TPP1

Linked Data

• dbSNP Id: rs1855546515
• MyVariant Identifiers: chr11:g.6635819T>C (hg19) ; chr11:g.6614588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614588T>C , CM000673.2:g.6614588T>C	GRCh38
NC_000011.9:g.6635819T>C , CM000673.1:g.6635819T>C	GRCh37
NC_000011.8:g.6592395T>C	NCBI36
NG_008653.1:g.9874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1536A>G	ENSP00000507321.1:p.Thr512=
ENST00000299427.12:c.1650A>G MANE Select	ENSP00000299427.6:p.Thr550=
ENST00000524611.2:n.689A>G
ENST00000533371.6:c.921A>G	ENSP00000437066.1:p.Thr307=
ENST00000642892.1:c.921A>G	ENSP00000494165.1:p.Thr307=
ENST00000643342.1:c.723A>G
ENST00000643439.1:c.*1390A>G	ENSP00000495849.1:n.*1390A>G
ENST00000643479.1:n.1836A>G
ENST00000643516.1:c.1159A>G
ENST00000644218.1:c.1461A>G	ENSP00000493574.1:p.Thr487=
ENST00000644683.1:c.*1103A>G	ENSP00000494085.1:n.*1103A>G
ENST00000644810.1:c.1371A>G	ENSP00000495895.1:p.Thr457=
ENST00000644831.1:n.1826A>G
ENST00000644933.1:c.*516A>G	ENSP00000496133.1:n.*516A>G
ENST00000645285.1:c.*516A>G	ENSP00000495058.1:n.*516A>G
ENST00000645331.1:n.2855A>G
ENST00000645620.1:c.921A>G	ENSP00000493657.1:p.Thr307=
ENST00000646691.1:n.1537A>G
ENST00000646777.1:n.1983A>G
ENST00000647016.1:n.2130A>G
ENST00000647152.1:c.921A>G	ENSP00000495893.1:p.Thr307=
ENST00000647209.1:c.*1519A>G	ENSP00000495558.1:n.*1519A>G
ENST00000647346.1:n.2670A>G
ENST00000299427.10:c.1650A>G	ENSP00000299427.6:p.Thr550=
ENST00000533371.5:c.921A>G	ENSP00000437066.1:p.Thr307=
ENST00000611494.4:c.1650A>G	ENSP00000484546.1:p.Thr550=
NM_000391.3:c.1650A>G	NP_000382.3:p.Thr550=
NM_000391.4:c.1650A>G MANE Select	NP_000382.3:p.Thr550=