Canonical Allele Identifier: CA379474886

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637913T>C (hg19) ; chr11:g.6616682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616682T>C , CM000673.2:g.6616682T>C	GRCh38
NC_000011.9:g.6637913T>C , CM000673.1:g.6637913T>C	GRCh37
NC_000011.8:g.6594489T>C	NCBI36
NG_008653.1:g.7780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.751A>G	ENSP00000507321.1:p.Thr251Ala
ENST00000299427.12:c.865A>G MANE Select	ENSP00000299427.6:p.Thr289Ala
ENST00000436873.7:c.313-608A>G
ENST00000524788.2:n.2024A>G
ENST00000524903.2:n.2140A>G
ENST00000528807.2:n.521A>G
ENST00000530040.2:n.480-179A>G
ENST00000533371.6:c.136A>G	ENSP00000437066.1:p.Thr46Ala
ENST00000642892.1:c.136A>G	ENSP00000494165.1:p.Thr46Ala
ENST00000643439.1:c.*605A>G	ENSP00000495849.1:n.*605A>G
ENST00000643479.1:n.894A>G
ENST00000643516.1:c.396-179A>G
ENST00000644151.1:n.2304A>G
ENST00000644218.1:c.865A>G	ENSP00000493574.1:p.Thr289Ala
ENST00000644683.1:c.*318A>G	ENSP00000494085.1:n.*318A>G
ENST00000644810.1:c.586A>G	ENSP00000495895.1:p.Thr196Ala
ENST00000644831.1:n.1041A>G
ENST00000644933.1:c.136A>G	ENSP00000496133.1:p.Thr46Ala
ENST00000645020.1:n.2155A>G
ENST00000645285.1:c.136A>G	ENSP00000495058.1:p.Thr46Ala
ENST00000645331.1:n.1231A>G
ENST00000645620.1:c.136A>G	ENSP00000493657.1:p.Thr46Ala
ENST00000646777.1:n.1041A>G
ENST00000647016.1:n.1345A>G
ENST00000647152.1:c.136A>G	ENSP00000495893.1:p.Thr46Ala
ENST00000647209.1:c.*734A>G	ENSP00000495558.1:n.*734A>G
ENST00000647346.1:n.1885A>G
ENST00000299427.10:c.865A>G	ENSP00000299427.6:p.Thr289Ala
ENST00000436873.6:c.451-179A>G	ENSP00000398136.2:n.451-179A>G
ENST00000528807.1:n.415A>G
ENST00000533371.5:c.136A>G	ENSP00000437066.1:p.Thr46Ala
ENST00000611494.4:c.865A>G	ENSP00000484546.1:p.Thr289Ala
NM_000391.3:c.865A>G	NP_000382.3:p.Thr289Ala
NM_000391.4:c.865A>G MANE Select	NP_000382.3:p.Thr289Ala