Canonical Allele Identifier: CA472769556

Gene: TPP1

Linked Data

• ClinVar Variation Id: 527769
• ClinVar RCV Id: RCV001490959
• dbSNP Id: rs1554901473
• MyVariant Identifiers: chr11:g.6635876T>C (hg19) ; chr11:g.6614645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614645T>C , CM000673.2:g.6614645T>C	GRCh38
NC_000011.9:g.6635876T>C , CM000673.1:g.6635876T>C	GRCh37
NC_000011.8:g.6592452T>C	NCBI36
NG_008653.1:g.9817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1479A>G	ENSP00000507321.1:p.Val493=
ENST00000299427.12:c.1593A>G MANE Select	ENSP00000299427.6:p.Val531=
ENST00000524611.2:n.632A>G
ENST00000524924.2:n.713A>G
ENST00000533371.6:c.864A>G	ENSP00000437066.1:p.Val288=
ENST00000642892.1:c.864A>G	ENSP00000494165.1:p.Val288=
ENST00000643342.1:c.666A>G
ENST00000643439.1:c.*1333A>G	ENSP00000495849.1:n.*1333A>G
ENST00000643479.1:n.1779A>G
ENST00000643516.1:c.1102A>G
ENST00000644218.1:c.1404A>G	ENSP00000493574.1:p.Val468=
ENST00000644683.1:c.*1046A>G	ENSP00000494085.1:n.*1046A>G
ENST00000644810.1:c.1314A>G	ENSP00000495895.1:p.Val438=
ENST00000644831.1:n.1769A>G
ENST00000644933.1:c.*459A>G	ENSP00000496133.1:n.*459A>G
ENST00000645285.1:c.*459A>G	ENSP00000495058.1:n.*459A>G
ENST00000645331.1:n.2798A>G
ENST00000645620.1:c.864A>G	ENSP00000493657.1:p.Val288=
ENST00000646691.1:n.1480A>G
ENST00000646777.1:n.1926A>G
ENST00000647016.1:n.2073A>G
ENST00000647152.1:c.864A>G	ENSP00000495893.1:p.Val288=
ENST00000647209.1:c.*1462A>G	ENSP00000495558.1:n.*1462A>G
ENST00000647346.1:n.2613A>G
ENST00000299427.10:c.1593A>G	ENSP00000299427.6:p.Val531=
ENST00000533371.5:c.864A>G	ENSP00000437066.1:p.Val288=
ENST00000611494.4:c.1593A>G	ENSP00000484546.1:p.Val531=
NM_000391.3:c.1593A>G	NP_000382.3:p.Val531=
NM_000391.4:c.1593A>G MANE Select	NP_000382.3:p.Val531=