Canonical Allele Identifier: CA379472060

Gene: TPP1

Linked Data

• dbSNP Id: rs1589947345
• MyVariant Identifiers: chr11:g.6635841T>C (hg19) ; chr11:g.6614610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614610T>C , CM000673.2:g.6614610T>C	GRCh38
NC_000011.9:g.6635841T>C , CM000673.1:g.6635841T>C	GRCh37
NC_000011.8:g.6592417T>C	NCBI36
NG_008653.1:g.9852A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1514A>G	ENSP00000507321.1:p.Asp505Gly
ENST00000299427.12:c.1628A>G MANE Select	ENSP00000299427.6:p.Asp543Gly
ENST00000524611.2:n.667A>G
ENST00000524924.2:n.748A>G
ENST00000533371.6:c.899A>G	ENSP00000437066.1:p.Asp300Gly
ENST00000642892.1:c.899A>G	ENSP00000494165.1:p.Asp300Gly
ENST00000643342.1:c.701A>G
ENST00000643439.1:c.*1368A>G	ENSP00000495849.1:n.*1368A>G
ENST00000643479.1:n.1814A>G
ENST00000643516.1:c.1137A>G
ENST00000644218.1:c.1439A>G	ENSP00000493574.1:p.Asp480Gly
ENST00000644683.1:c.*1081A>G	ENSP00000494085.1:n.*1081A>G
ENST00000644810.1:c.1349A>G	ENSP00000495895.1:p.Asp450Gly
ENST00000644831.1:n.1804A>G
ENST00000644933.1:c.*494A>G	ENSP00000496133.1:n.*494A>G
ENST00000645285.1:c.*494A>G	ENSP00000495058.1:n.*494A>G
ENST00000645331.1:n.2833A>G
ENST00000645620.1:c.899A>G	ENSP00000493657.1:p.Asp300Gly
ENST00000646691.1:n.1515A>G
ENST00000646777.1:n.1961A>G
ENST00000647016.1:n.2108A>G
ENST00000647152.1:c.899A>G	ENSP00000495893.1:p.Asp300Gly
ENST00000647209.1:c.*1497A>G	ENSP00000495558.1:n.*1497A>G
ENST00000647346.1:n.2648A>G
ENST00000299427.10:c.1628A>G	ENSP00000299427.6:p.Asp543Gly
ENST00000533371.5:c.899A>G	ENSP00000437066.1:p.Asp300Gly
ENST00000611494.4:c.1628A>G	ENSP00000484546.1:p.Asp543Gly
NM_000391.3:c.1628A>G	NP_000382.3:p.Asp543Gly
NM_000391.4:c.1628A>G MANE Select	NP_000382.3:p.Asp543Gly