Canonical Allele Identifier: CA379475167

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638039A>C (hg19) ; chr11:g.6616808A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616808A>C , CM000673.2:g.6616808A>C	GRCh38
NC_000011.9:g.6638039A>C , CM000673.1:g.6638039A>C	GRCh37
NC_000011.8:g.6594615A>C	NCBI36
NG_008653.1:g.7654T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.625T>G	ENSP00000507321.1:p.Phe209Val
ENST00000299427.12:c.739T>G MANE Select	ENSP00000299427.6:p.Phe247Val
ENST00000436873.7:c.312+493T>G
ENST00000524788.2:n.1898T>G
ENST00000524903.2:n.2014T>G
ENST00000528807.2:n.395T>G
ENST00000530040.2:n.480-305T>G
ENST00000533371.6:c.10T>G	ENSP00000437066.1:p.Phe4Val
ENST00000642892.1:c.10T>G	ENSP00000494165.1:p.Phe4Val
ENST00000643439.1:c.*479T>G	ENSP00000495849.1:n.*479T>G
ENST00000643479.1:n.768T>G
ENST00000643516.1:c.396-305T>G
ENST00000644151.1:n.2178T>G
ENST00000644218.1:c.739T>G	ENSP00000493574.1:p.Phe247Val
ENST00000644683.1:c.*192T>G	ENSP00000494085.1:n.*192T>G
ENST00000644810.1:c.460T>G	ENSP00000495895.1:p.Phe154Val
ENST00000644831.1:n.915T>G
ENST00000644933.1:c.10T>G	ENSP00000496133.1:p.Phe4Val
ENST00000645020.1:n.2029T>G
ENST00000645285.1:c.10T>G	ENSP00000495058.1:p.Phe4Val
ENST00000645331.1:n.1105T>G
ENST00000645620.1:c.10T>G	ENSP00000493657.1:p.Phe4Val
ENST00000646777.1:n.915T>G
ENST00000647016.1:n.1219T>G
ENST00000647152.1:c.10T>G	ENSP00000495893.1:p.Phe4Val
ENST00000647209.1:c.*608T>G	ENSP00000495558.1:n.*608T>G
ENST00000647346.1:n.1759T>G
ENST00000299427.10:c.739T>G	ENSP00000299427.6:p.Phe247Val
ENST00000436873.6:c.451-305T>G	ENSP00000398136.2:n.451-305T>G
ENST00000524788.1:n.439T>G
ENST00000528807.1:n.289T>G
ENST00000533371.5:c.10T>G	ENSP00000437066.1:p.Phe4Val
ENST00000611494.4:c.739T>G	ENSP00000484546.1:p.Phe247Val
NM_000391.3:c.739T>G	NP_000382.3:p.Phe247Val
NM_000391.4:c.739T>G MANE Select	NP_000382.3:p.Phe247Val