Canonical Allele Identifier: CA379472045

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635833T>C (hg19) ; chr11:g.6614602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614602T>C , CM000673.2:g.6614602T>C	GRCh38
NC_000011.9:g.6635833T>C , CM000673.1:g.6635833T>C	GRCh37
NC_000011.8:g.6592409T>C	NCBI36
NG_008653.1:g.9860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1522A>G	ENSP00000507321.1:p.Thr508Ala
ENST00000299427.12:c.1636A>G MANE Select	ENSP00000299427.6:p.Thr546Ala
ENST00000524611.2:n.675A>G
ENST00000524924.2:n.756A>G
ENST00000533371.6:c.907A>G	ENSP00000437066.1:p.Thr303Ala
ENST00000642892.1:c.907A>G	ENSP00000494165.1:p.Thr303Ala
ENST00000643342.1:c.709A>G
ENST00000643439.1:c.*1376A>G	ENSP00000495849.1:n.*1376A>G
ENST00000643479.1:n.1822A>G
ENST00000643516.1:c.1145A>G
ENST00000644218.1:c.1447A>G	ENSP00000493574.1:p.Thr483Ala
ENST00000644683.1:c.*1089A>G	ENSP00000494085.1:n.*1089A>G
ENST00000644810.1:c.1357A>G	ENSP00000495895.1:p.Thr453Ala
ENST00000644831.1:n.1812A>G
ENST00000644933.1:c.*502A>G	ENSP00000496133.1:n.*502A>G
ENST00000645285.1:c.*502A>G	ENSP00000495058.1:n.*502A>G
ENST00000645331.1:n.2841A>G
ENST00000645620.1:c.907A>G	ENSP00000493657.1:p.Thr303Ala
ENST00000646691.1:n.1523A>G
ENST00000646777.1:n.1969A>G
ENST00000647016.1:n.2116A>G
ENST00000647152.1:c.907A>G	ENSP00000495893.1:p.Thr303Ala
ENST00000647209.1:c.*1505A>G	ENSP00000495558.1:n.*1505A>G
ENST00000647346.1:n.2656A>G
ENST00000299427.10:c.1636A>G	ENSP00000299427.6:p.Thr546Ala
ENST00000533371.5:c.907A>G	ENSP00000437066.1:p.Thr303Ala
ENST00000611494.4:c.1636A>G	ENSP00000484546.1:p.Thr546Ala
NM_000391.3:c.1636A>G	NP_000382.3:p.Thr546Ala
NM_000391.4:c.1636A>G MANE Select	NP_000382.3:p.Thr546Ala