Canonical Allele Identifier: CA379471938

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1422837
• ClinVar RCV Id: RCV001926276
• dbSNP Id: rs566120191
• MyVariant Identifiers: chr11:g.6635788G>C (hg19) ; chr11:g.6614557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614557G>C , CM000673.2:g.6614557G>C	GRCh38
NC_000011.9:g.6635788G>C , CM000673.1:g.6635788G>C	GRCh37
NC_000011.8:g.6592364G>C	NCBI36
NG_008653.1:g.9905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1567C>G	ENSP00000507321.1:p.Leu523Val
ENST00000299427.12:c.1681C>G MANE Select	ENSP00000299427.6:p.Leu561Val
ENST00000524611.2:n.720C>G
ENST00000533371.6:c.952C>G	ENSP00000437066.1:p.Leu318Val
ENST00000642892.1:c.952C>G	ENSP00000494165.1:p.Leu318Val
ENST00000643342.1:c.754C>G
ENST00000643439.1:c.*1421C>G	ENSP00000495849.1:n.*1421C>G
ENST00000643479.1:n.1867C>G
ENST00000643516.1:c.1190C>G
ENST00000644218.1:c.1492C>G	ENSP00000493574.1:p.Leu498Val
ENST00000644683.1:c.*1134C>G	ENSP00000494085.1:n.*1134C>G
ENST00000644810.1:c.1402C>G	ENSP00000495895.1:p.Leu468Val
ENST00000644831.1:n.1857C>G
ENST00000644933.1:c.*547C>G	ENSP00000496133.1:n.*547C>G
ENST00000645285.1:c.*547C>G	ENSP00000495058.1:n.*547C>G
ENST00000645331.1:n.2886C>G
ENST00000645620.1:c.952C>G	ENSP00000493657.1:p.Leu318Val
ENST00000646691.1:n.1568C>G
ENST00000646777.1:n.2014C>G
ENST00000647016.1:n.2161C>G
ENST00000647152.1:c.952C>G	ENSP00000495893.1:p.Leu318Val
ENST00000647209.1:c.*1550C>G	ENSP00000495558.1:n.*1550C>G
ENST00000647346.1:n.2701C>G
ENST00000299427.10:c.1681C>G	ENSP00000299427.6:p.Leu561Val
ENST00000533371.5:c.952C>G	ENSP00000437066.1:p.Leu318Val
ENST00000611494.4:c.*9C>G	ENSP00000484546.1:n.*9C>G
NM_000391.3:c.1681C>G	NP_000382.3:p.Leu561Val
NM_000391.4:c.1681C>G MANE Select	NP_000382.3:p.Leu561Val