Canonical Allele Identifier: CA379472182

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635896A>C (hg19) ; chr11:g.6614665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614665A>C , CM000673.2:g.6614665A>C	GRCh38
NC_000011.9:g.6635896A>C , CM000673.1:g.6635896A>C	GRCh37
NC_000011.8:g.6592472A>C	NCBI36
NG_008653.1:g.9797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1459T>G	ENSP00000507321.1:p.Ser487Ala
ENST00000299427.12:c.1573T>G MANE Select	ENSP00000299427.6:p.Ser525Ala
ENST00000524611.2:n.612T>G
ENST00000524924.2:n.693T>G
ENST00000533371.6:c.844T>G	ENSP00000437066.1:p.Ser282Ala
ENST00000642892.1:c.844T>G	ENSP00000494165.1:p.Ser282Ala
ENST00000643342.1:c.646T>G
ENST00000643439.1:c.*1313T>G	ENSP00000495849.1:n.*1313T>G
ENST00000643479.1:n.1759T>G
ENST00000643516.1:c.1082T>G
ENST00000644218.1:c.1384T>G	ENSP00000493574.1:p.Ser462Ala
ENST00000644683.1:c.*1026T>G	ENSP00000494085.1:n.*1026T>G
ENST00000644810.1:c.1294T>G	ENSP00000495895.1:p.Ser432Ala
ENST00000644831.1:n.1749T>G
ENST00000644933.1:c.*439T>G	ENSP00000496133.1:n.*439T>G
ENST00000645285.1:c.*439T>G	ENSP00000495058.1:n.*439T>G
ENST00000645331.1:n.2778T>G
ENST00000645620.1:c.844T>G	ENSP00000493657.1:p.Ser282Ala
ENST00000646691.1:n.1460T>G
ENST00000646777.1:n.1906T>G
ENST00000647016.1:n.2053T>G
ENST00000647152.1:c.844T>G	ENSP00000495893.1:p.Ser282Ala
ENST00000647209.1:c.*1442T>G	ENSP00000495558.1:n.*1442T>G
ENST00000647346.1:n.2593T>G
ENST00000299427.10:c.1573T>G	ENSP00000299427.6:p.Ser525Ala
ENST00000524611.1:n.451T>G
ENST00000533371.5:c.844T>G	ENSP00000437066.1:p.Ser282Ala
ENST00000611494.4:c.1573T>G	ENSP00000484546.1:p.Ser525Ala
NM_000391.3:c.1573T>G	NP_000382.3:p.Ser525Ala
NM_000391.4:c.1573T>G MANE Select	NP_000382.3:p.Ser525Ala