Canonical Allele Identifier: CA379472167

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635889A>G (hg19) ; chr11:g.6614658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614658A>G , CM000673.2:g.6614658A>G	GRCh38
NC_000011.9:g.6635889A>G , CM000673.1:g.6635889A>G	GRCh37
NC_000011.8:g.6592465A>G	NCBI36
NG_008653.1:g.9804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1466T>C	ENSP00000507321.1:p.Leu489Pro
ENST00000299427.12:c.1580T>C MANE Select	ENSP00000299427.6:p.Leu527Pro
ENST00000524611.2:n.619T>C
ENST00000524924.2:n.700T>C
ENST00000533371.6:c.851T>C	ENSP00000437066.1:p.Leu284Pro
ENST00000642892.1:c.851T>C	ENSP00000494165.1:p.Leu284Pro
ENST00000643342.1:c.653T>C
ENST00000643439.1:c.*1320T>C	ENSP00000495849.1:n.*1320T>C
ENST00000643479.1:n.1766T>C
ENST00000643516.1:c.1089T>C
ENST00000644218.1:c.1391T>C	ENSP00000493574.1:p.Leu464Pro
ENST00000644683.1:c.*1033T>C	ENSP00000494085.1:n.*1033T>C
ENST00000644810.1:c.1301T>C	ENSP00000495895.1:p.Leu434Pro
ENST00000644831.1:n.1756T>C
ENST00000644933.1:c.*446T>C	ENSP00000496133.1:n.*446T>C
ENST00000645285.1:c.*446T>C	ENSP00000495058.1:n.*446T>C
ENST00000645331.1:n.2785T>C
ENST00000645620.1:c.851T>C	ENSP00000493657.1:p.Leu284Pro
ENST00000646691.1:n.1467T>C
ENST00000646777.1:n.1913T>C
ENST00000647016.1:n.2060T>C
ENST00000647152.1:c.851T>C	ENSP00000495893.1:p.Leu284Pro
ENST00000647209.1:c.*1449T>C	ENSP00000495558.1:n.*1449T>C
ENST00000647346.1:n.2600T>C
ENST00000299427.10:c.1580T>C	ENSP00000299427.6:p.Leu527Pro
ENST00000524611.1:n.458T>C
ENST00000533371.5:c.851T>C	ENSP00000437066.1:p.Leu284Pro
ENST00000611494.4:c.1580T>C	ENSP00000484546.1:p.Leu527Pro
NM_000391.3:c.1580T>C	NP_000382.3:p.Leu527Pro
NM_000391.4:c.1580T>C MANE Select	NP_000382.3:p.Leu527Pro