Canonical Allele Identifier: CA379471971

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635803A>C (hg19) ; chr11:g.6614572A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614572A>C , CM000673.2:g.6614572A>C	GRCh38
NC_000011.9:g.6635803A>C , CM000673.1:g.6635803A>C	GRCh37
NC_000011.8:g.6592379A>C	NCBI36
NG_008653.1:g.9890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1552T>G	ENSP00000507321.1:p.Leu518Val
ENST00000299427.12:c.1666T>G MANE Select	ENSP00000299427.6:p.Leu556Val
ENST00000524611.2:n.705T>G
ENST00000533371.6:c.937T>G	ENSP00000437066.1:p.Leu313Val
ENST00000642892.1:c.937T>G	ENSP00000494165.1:p.Leu313Val
ENST00000643342.1:c.739T>G
ENST00000643439.1:c.*1406T>G	ENSP00000495849.1:n.*1406T>G
ENST00000643479.1:n.1852T>G
ENST00000643516.1:c.1175T>G
ENST00000644218.1:c.1477T>G	ENSP00000493574.1:p.Leu493Val
ENST00000644683.1:c.*1119T>G	ENSP00000494085.1:n.*1119T>G
ENST00000644810.1:c.1387T>G	ENSP00000495895.1:p.Leu463Val
ENST00000644831.1:n.1842T>G
ENST00000644933.1:c.*532T>G	ENSP00000496133.1:n.*532T>G
ENST00000645285.1:c.*532T>G	ENSP00000495058.1:n.*532T>G
ENST00000645331.1:n.2871T>G
ENST00000645620.1:c.937T>G	ENSP00000493657.1:p.Leu313Val
ENST00000646691.1:n.1553T>G
ENST00000646777.1:n.1999T>G
ENST00000647016.1:n.2146T>G
ENST00000647152.1:c.937T>G	ENSP00000495893.1:p.Leu313Val
ENST00000647209.1:c.*1535T>G	ENSP00000495558.1:n.*1535T>G
ENST00000647346.1:n.2686T>G
ENST00000299427.10:c.1666T>G	ENSP00000299427.6:p.Leu556Val
ENST00000533371.5:c.937T>G	ENSP00000437066.1:p.Leu313Val
ENST00000611494.4:c.1665T>G	ENSP00000484546.1:p.Leu555=
NM_000391.3:c.1666T>G	NP_000382.3:p.Leu556Val
NM_000391.4:c.1666T>G MANE Select	NP_000382.3:p.Leu556Val