Canonical Allele Identifier: CA379475139

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638027A>C (hg19) ; chr11:g.6616796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616796A>C , CM000673.2:g.6616796A>C	GRCh38
NC_000011.9:g.6638027A>C , CM000673.1:g.6638027A>C	GRCh37
NC_000011.8:g.6594603A>C	NCBI36
NG_008653.1:g.7666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.637T>G	ENSP00000507321.1:p.Phe213Val
ENST00000299427.12:c.751T>G MANE Select	ENSP00000299427.6:p.Phe251Val
ENST00000436873.7:c.312+505T>G
ENST00000524788.2:n.1910T>G
ENST00000524903.2:n.2026T>G
ENST00000528807.2:n.407T>G
ENST00000530040.2:n.480-293T>G
ENST00000533371.6:c.22T>G	ENSP00000437066.1:p.Phe8Val
ENST00000642892.1:c.22T>G	ENSP00000494165.1:p.Phe8Val
ENST00000643439.1:c.*491T>G	ENSP00000495849.1:n.*491T>G
ENST00000643479.1:n.780T>G
ENST00000643516.1:c.396-293T>G
ENST00000644151.1:n.2190T>G
ENST00000644218.1:c.751T>G	ENSP00000493574.1:p.Phe251Val
ENST00000644683.1:c.*204T>G	ENSP00000494085.1:n.*204T>G
ENST00000644810.1:c.472T>G	ENSP00000495895.1:p.Phe158Val
ENST00000644831.1:n.927T>G
ENST00000644933.1:c.22T>G	ENSP00000496133.1:p.Phe8Val
ENST00000645020.1:n.2041T>G
ENST00000645285.1:c.22T>G	ENSP00000495058.1:p.Phe8Val
ENST00000645331.1:n.1117T>G
ENST00000645620.1:c.22T>G	ENSP00000493657.1:p.Phe8Val
ENST00000646777.1:n.927T>G
ENST00000647016.1:n.1231T>G
ENST00000647152.1:c.22T>G	ENSP00000495893.1:p.Phe8Val
ENST00000647209.1:c.*620T>G	ENSP00000495558.1:n.*620T>G
ENST00000647346.1:n.1771T>G
ENST00000299427.10:c.751T>G	ENSP00000299427.6:p.Phe251Val
ENST00000436873.6:c.451-293T>G	ENSP00000398136.2:n.451-293T>G
ENST00000524788.1:n.451T>G
ENST00000528807.1:n.301T>G
ENST00000533371.5:c.22T>G	ENSP00000437066.1:p.Phe8Val
ENST00000611494.4:c.751T>G	ENSP00000484546.1:p.Phe251Val
NM_000391.3:c.751T>G	NP_000382.3:p.Phe251Val
NM_000391.4:c.751T>G MANE Select	NP_000382.3:p.Phe251Val