Canonical Allele Identifier: CA266179

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68736
• ClinVar RCV Id: RCV000059618 ; RCV001854251
• dbSNP Id: rs121908198
• MyVariant Identifiers: chr11:g.6636785A>T (hg19) ; chr11:g.6615554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615554A>T , CM000673.2:g.6615554A>T	GRCh38
NC_000011.9:g.6636785A>T , CM000673.1:g.6636785A>T	GRCh37
NC_000011.8:g.6593361A>T	NCBI36
NG_008653.1:g.8908T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1040T>A	ENSP00000507321.1:p.Val347Asp
ENST00000299427.12:c.1154T>A MANE Select	ENSP00000299427.6:p.Val385Asp
ENST00000436873.7:c.391T>A
ENST00000524924.2:n.274T>A
ENST00000533371.6:c.425T>A	ENSP00000437066.1:p.Val142Asp
ENST00000642892.1:c.425T>A	ENSP00000494165.1:p.Val142Asp
ENST00000643342.1:c.236-9T>A
ENST00000643439.1:c.*894T>A	ENSP00000495849.1:n.*894T>A
ENST00000643479.1:n.1340T>A
ENST00000643516.1:c.663T>A
ENST00000644218.1:c.965T>A	ENSP00000493574.1:p.Val322Asp
ENST00000644683.1:c.*607T>A	ENSP00000494085.1:n.*607T>A
ENST00000644810.1:c.875T>A	ENSP00000495895.1:p.Val292Asp
ENST00000644831.1:n.1330T>A
ENST00000644933.1:c.*20T>A	ENSP00000496133.1:n.*20T>A
ENST00000645285.1:c.*20T>A	ENSP00000495058.1:n.*20T>A
ENST00000645331.1:n.2359T>A
ENST00000645620.1:c.425T>A	ENSP00000493657.1:p.Val142Asp
ENST00000646691.1:n.929T>A
ENST00000646777.1:n.1487T>A
ENST00000647016.1:n.1634T>A
ENST00000647152.1:c.425T>A	ENSP00000495893.1:p.Val142Asp
ENST00000647209.1:c.*1023T>A	ENSP00000495558.1:n.*1023T>A
ENST00000647346.1:n.2174T>A
ENST00000299427.10:c.1154T>A	ENSP00000299427.6:p.Val385Asp
ENST00000524924.1:n.109T>A
ENST00000532191.1:n.207T>A
ENST00000533371.5:c.425T>A	ENSP00000437066.1:p.Val142Asp
ENST00000611494.4:c.1154T>A	ENSP00000484546.1:p.Val385Asp
NM_000391.3:c.1154T>A	NP_000382.3:p.Val385Asp
NM_000391.4:c.1154T>A MANE Select	NP_000382.3:p.Val385Asp