Canonical Allele Identifier: CA472769057

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635803A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1552T>C	ENSP00000507321.1:p.Leu518=
ENST00000299427.12:c.1666T>C MANE Select	ENSP00000299427.6:p.Leu556=
ENST00000524611.2:n.705T>C
ENST00000533371.6:c.937T>C	ENSP00000437066.1:p.Leu313=
ENST00000642892.1:c.937T>C	ENSP00000494165.1:p.Leu313=
ENST00000643342.1:c.739T>C
ENST00000643439.1:c.*1406T>C	ENSP00000495849.1:n.*1406T>C
ENST00000643479.1:n.1852T>C
ENST00000643516.1:c.1175T>C
ENST00000644218.1:c.1477T>C	ENSP00000493574.1:p.Leu493=
ENST00000644683.1:c.*1119T>C	ENSP00000494085.1:n.*1119T>C
ENST00000644810.1:c.1387T>C	ENSP00000495895.1:p.Leu463=
ENST00000644831.1:n.1842T>C
ENST00000644933.1:c.*532T>C	ENSP00000496133.1:n.*532T>C
ENST00000645285.1:c.*532T>C	ENSP00000495058.1:n.*532T>C
ENST00000645331.1:n.2871T>C
ENST00000645620.1:c.937T>C	ENSP00000493657.1:p.Leu313=
ENST00000646691.1:n.1553T>C
ENST00000646777.1:n.1999T>C
ENST00000647016.1:n.2146T>C
ENST00000647152.1:c.937T>C	ENSP00000495893.1:p.Leu313=
ENST00000647209.1:c.*1535T>C	ENSP00000495558.1:n.*1535T>C
ENST00000647346.1:n.2686T>C
ENST00000299427.10:c.1666T>C	ENSP00000299427.6:p.Leu556=
ENST00000533371.5:c.937T>C	ENSP00000437066.1:p.Leu313=
ENST00000611494.4:c.1665T>C	ENSP00000484546.1:p.Leu555=
NM_000391.3:c.1666T>C	NP_000382.3:p.Leu556=
NM_000391.4:c.1666T>C MANE Select	NP_000382.3:p.Leu556=