Canonical Allele Identifier: CA934783931

Gene: TPP1

Linked Data

• ClinVar Variation Id: 3000383
• ClinVar RCV Id: RCV003857558
• dbSNP Id: rs1855594061
• gnomAD v4: 11-6616876-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616876A>G , CM000673.2:g.6616876A>G	GRCh38
NC_000011.9:g.6638107A>G , CM000673.1:g.6638107A>G	GRCh37
NC_000011.8:g.6594683A>G	NCBI36
NG_008653.1:g.7586T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.574-17T>C	ENSP00000507321.1:n.574-17T>C
ENST00000299427.12:c.688-17T>C MANE Select	ENSP00000299427.6:n.688-17T>C
ENST00000436873.7:c.312+425T>C
ENST00000524788.2:n.1847-17T>C
ENST00000524903.2:n.1963-17T>C
ENST00000528807.2:n.344-17T>C
ENST00000530040.2:n.480-373T>C
ENST00000533371.6:c.-42-17T>C	ENSP00000437066.1:n.-42-17T>C
ENST00000642892.1:c.-42-17T>C	ENSP00000494165.1:n.-42-17T>C
ENST00000643439.1:c.*428-17T>C	ENSP00000495849.1:n.*428-17T>C
ENST00000643479.1:n.717-17T>C
ENST00000643516.1:c.396-373T>C
ENST00000644151.1:n.2127-17T>C
ENST00000644218.1:c.688-17T>C	ENSP00000493574.1:n.688-17T>C
ENST00000644683.1:c.*141-17T>C	ENSP00000494085.1:n.*141-17T>C
ENST00000644810.1:c.409-17T>C	ENSP00000495895.1:n.409-17T>C
ENST00000644831.1:n.864-17T>C
ENST00000644933.1:c.-42-17T>C	ENSP00000496133.1:n.-42-17T>C
ENST00000645020.1:n.1961T>C
ENST00000645285.1:c.-42-17T>C	ENSP00000495058.1:n.-42-17T>C
ENST00000645331.1:n.1054-17T>C
ENST00000645620.1:c.-42-17T>C	ENSP00000493657.1:n.-42-17T>C
ENST00000646777.1:n.864-17T>C
ENST00000647016.1:n.1168-17T>C
ENST00000647152.1:c.-42-17T>C	ENSP00000495893.1:n.-42-17T>C
ENST00000647209.1:c.*557-17T>C	ENSP00000495558.1:n.*557-17T>C
ENST00000647346.1:n.1708-17T>C
ENST00000299427.10:c.688-17T>C	ENSP00000299427.6:n.688-17T>C
ENST00000436873.6:c.451-373T>C	ENSP00000398136.2:n.451-373T>C
ENST00000524788.1:n.388-17T>C
ENST00000528807.1:n.238-17T>C
ENST00000533371.5:c.-42-17T>C	ENSP00000437066.1:n.-42-17T>C
ENST00000611494.4:c.688-17T>C	ENSP00000484546.1:n.688-17T>C
NM_000391.3:c.688-17T>C	NP_000382.3:n.688-17T>C
NM_000391.4:c.688-17T>C MANE Select	NP_000382.3:n.688-17T>C