Canonical Allele Identifier: CA1950237551

Gene: TPP1

Linked Data

• dbSNP Id: rs1589948522

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616911T>G , CM000673.2:g.6616911T>G	GRCh38
NC_000011.9:g.6638142T>G , CM000673.1:g.6638142T>G	GRCh37
NC_000011.8:g.6594718T>G	NCBI36
NG_008653.1:g.7551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.574-52A>C	ENSP00000507321.1:n.574-52A>C
ENST00000299427.12:c.688-52A>C MANE Select	ENSP00000299427.6:n.688-52A>C
ENST00000436873.7:c.312+390A>C
ENST00000524788.2:n.1847-52A>C
ENST00000524903.2:n.1963-52A>C
ENST00000528807.2:n.344-52A>C
ENST00000530040.2:n.480-408A>C
ENST00000533371.6:c.-42-52A>C	ENSP00000437066.1:n.-42-52A>C
ENST00000642892.1:c.-42-52A>C	ENSP00000494165.1:n.-42-52A>C
ENST00000643439.1:c.*428-52A>C	ENSP00000495849.1:n.*428-52A>C
ENST00000643479.1:n.717-52A>C
ENST00000643516.1:c.395+390A>C
ENST00000644151.1:n.2127-52A>C
ENST00000644218.1:c.688-52A>C	ENSP00000493574.1:n.688-52A>C
ENST00000644683.1:c.*141-52A>C	ENSP00000494085.1:n.*141-52A>C
ENST00000644810.1:c.409-52A>C	ENSP00000495895.1:n.409-52A>C
ENST00000644831.1:n.864-52A>C
ENST00000644933.1:c.-42-52A>C	ENSP00000496133.1:n.-42-52A>C
ENST00000645020.1:n.1926A>C
ENST00000645285.1:c.-42-52A>C	ENSP00000495058.1:n.-42-52A>C
ENST00000645331.1:n.1054-52A>C
ENST00000645620.1:c.-42-52A>C	ENSP00000493657.1:n.-42-52A>C
ENST00000646777.1:n.864-52A>C
ENST00000647016.1:n.1168-52A>C
ENST00000647152.1:c.-42-52A>C	ENSP00000495893.1:n.-42-52A>C
ENST00000647209.1:c.*557-52A>C	ENSP00000495558.1:n.*557-52A>C
ENST00000647346.1:n.1708-52A>C
ENST00000299427.10:c.688-52A>C	ENSP00000299427.6:n.688-52A>C
ENST00000436873.6:c.451-408A>C	ENSP00000398136.2:n.451-408A>C
ENST00000524788.1:n.388-52A>C
ENST00000528807.1:n.238-52A>C
ENST00000533371.5:c.-42-52A>C	ENSP00000437066.1:n.-42-52A>C
ENST00000611494.4:c.688-52A>C	ENSP00000484546.1:n.688-52A>C
NM_000391.3:c.688-52A>C	NP_000382.3:n.688-52A>C
NM_000391.4:c.688-52A>C MANE Select	NP_000382.3:n.688-52A>C