Canonical Allele Identifier: CA379476090

Gene: TPP1

Linked Data

• ClinVar Variation Id: 495859
• ClinVar RCV Id: RCV000589489 ; RCV000670849 ; RCV001860125
• dbSNP Id: rs1554902052
• MyVariant Identifiers: chr11:g.6638661T>C (hg19) ; chr11:g.6617430T>C (hg38)
• PubMed: PMID:11339651 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617430T>C , CM000673.2:g.6617430T>C	GRCh38
NC_000011.9:g.6638661T>C , CM000673.1:g.6638661T>C	GRCh37
NC_000011.8:g.6595237T>C	NCBI36
NG_008653.1:g.7032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.267-2A>G	ENSP00000507321.1:n.267-2A>G
ENST00000299427.12:c.381-2A>G MANE Select	ENSP00000299427.6:n.381-2A>G
ENST00000428886.7:n.469-2A>G
ENST00000436873.7:c.185-2A>G
ENST00000524788.2:n.1393-2A>G
ENST00000524903.2:n.1509-2A>G
ENST00000528571.6:c.*121-2A>G	ENSP00000434647.1:n.*121-2A>G
ENST00000528807.2:n.35A>G
ENST00000530040.2:n.410-2A>G
ENST00000533371.6:c.-349-2A>G	ENSP00000437066.1:n.-349-2A>G
ENST00000534644.6:n.382-2A>G
ENST00000642892.1:c.-296-2A>G	ENSP00000494165.1:n.-296-2A>G
ENST00000643439.1:c.*121-2A>G	ENSP00000495849.1:n.*121-2A>G
ENST00000643479.1:n.410-2A>G
ENST00000643516.1:c.268-2A>G
ENST00000644151.1:n.1673-2A>G
ENST00000644218.1:c.381-2A>G	ENSP00000493574.1:n.381-2A>G
ENST00000644683.1:c.381-2A>G	ENSP00000494085.1:n.381-2A>G
ENST00000644810.1:c.230-277A>G	ENSP00000495895.1:n.230-277A>G
ENST00000644831.1:n.410-2A>G
ENST00000644933.1:c.-349-2A>G	ENSP00000496133.1:n.-349-2A>G
ENST00000645020.1:n.1409-2A>G
ENST00000645285.1:c.-349-2A>G	ENSP00000495058.1:n.-349-2A>G
ENST00000645331.1:n.598A>G
ENST00000645620.1:c.-291-2A>G	ENSP00000493657.1:n.-291-2A>G
ENST00000646777.1:n.410-2A>G
ENST00000647016.1:n.714-2A>G
ENST00000647152.1:c.-349-2A>G	ENSP00000495893.1:n.-349-2A>G
ENST00000647209.1:c.*250-2A>G	ENSP00000495558.1:n.*250-2A>G
ENST00000647346.1:n.1401-2A>G
ENST00000299427.10:c.381-2A>G	ENSP00000299427.6:n.381-2A>G
ENST00000428886.6:n.403-2A>G
ENST00000436873.6:c.381-2A>G	ENSP00000398136.2:n.381-2A>G
ENST00000528571.5:c.*121-2A>G	ENSP00000434647.1:n.*121-2A>G
ENST00000530040.1:n.493-2A>G
ENST00000533371.5:c.-349-2A>G	ENSP00000437066.1:n.-349-2A>G
ENST00000534644.5:n.366-2A>G
ENST00000611494.4:c.381-2A>G	ENSP00000484546.1:n.381-2A>G
NM_000391.3:c.381-2A>G	NP_000382.3:n.381-2A>G
NM_000391.4:c.381-2A>G MANE Select	NP_000382.3:n.381-2A>G