Canonical Allele Identifier: CA379472061

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635841T>A (hg19) ; chr11:g.6614610T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1514A>T	ENSP00000507321.1:p.Asp505Val
ENST00000299427.12:c.1628A>T MANE Select	ENSP00000299427.6:p.Asp543Val
ENST00000524611.2:n.667A>T
ENST00000524924.2:n.748A>T
ENST00000533371.6:c.899A>T	ENSP00000437066.1:p.Asp300Val
ENST00000642892.1:c.899A>T	ENSP00000494165.1:p.Asp300Val
ENST00000643342.1:c.701A>T
ENST00000643439.1:c.*1368A>T	ENSP00000495849.1:n.*1368A>T
ENST00000643479.1:n.1814A>T
ENST00000643516.1:c.1137A>T
ENST00000644218.1:c.1439A>T	ENSP00000493574.1:p.Asp480Val
ENST00000644683.1:c.*1081A>T	ENSP00000494085.1:n.*1081A>T
ENST00000644810.1:c.1349A>T	ENSP00000495895.1:p.Asp450Val
ENST00000644831.1:n.1804A>T
ENST00000644933.1:c.*494A>T	ENSP00000496133.1:n.*494A>T
ENST00000645285.1:c.*494A>T	ENSP00000495058.1:n.*494A>T
ENST00000645331.1:n.2833A>T
ENST00000645620.1:c.899A>T	ENSP00000493657.1:p.Asp300Val
ENST00000646691.1:n.1515A>T
ENST00000646777.1:n.1961A>T
ENST00000647016.1:n.2108A>T
ENST00000647152.1:c.899A>T	ENSP00000495893.1:p.Asp300Val
ENST00000647209.1:c.*1497A>T	ENSP00000495558.1:n.*1497A>T
ENST00000647346.1:n.2648A>T
ENST00000299427.10:c.1628A>T	ENSP00000299427.6:p.Asp543Val
ENST00000533371.5:c.899A>T	ENSP00000437066.1:p.Asp300Val
ENST00000611494.4:c.1628A>T	ENSP00000484546.1:p.Asp543Val
NM_000391.3:c.1628A>T	NP_000382.3:p.Asp543Val
NM_000391.4:c.1628A>T MANE Select	NP_000382.3:p.Asp543Val