Canonical Allele Identifier: CA379474435

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637671A>C (hg19) ; chr11:g.6616440A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616440A>C , CM000673.2:g.6616440A>C	GRCh38
NC_000011.9:g.6637671A>C , CM000673.1:g.6637671A>C	GRCh37
NC_000011.8:g.6594247A>C	NCBI36
NG_008653.1:g.8022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.836T>G	ENSP00000507321.1:p.Leu279Arg
ENST00000299427.12:c.950T>G MANE Select	ENSP00000299427.6:p.Leu317Arg
ENST00000436873.7:c.313-366T>G
ENST00000530040.2:n.543T>G
ENST00000533371.6:c.221T>G	ENSP00000437066.1:p.Leu74Arg
ENST00000642892.1:c.221T>G	ENSP00000494165.1:p.Leu74Arg
ENST00000643342.1:c.40T>G
ENST00000643439.1:c.*690T>G	ENSP00000495849.1:n.*690T>G
ENST00000643479.1:n.1136T>G
ENST00000643516.1:c.459T>G
ENST00000644218.1:c.886+221T>G	ENSP00000493574.1:n.886+221T>G
ENST00000644683.1:c.*403T>G	ENSP00000494085.1:n.*403T>G
ENST00000644810.1:c.671T>G	ENSP00000495895.1:p.Leu224Arg
ENST00000644831.1:n.1126T>G
ENST00000644933.1:c.221T>G	ENSP00000496133.1:p.Leu74Arg
ENST00000645285.1:c.157+221T>G	ENSP00000495058.1:n.157+221T>G
ENST00000645331.1:n.1473T>G
ENST00000645620.1:c.221T>G	ENSP00000493657.1:p.Leu74Arg
ENST00000646691.1:n.43T>G
ENST00000646777.1:n.1283T>G
ENST00000647016.1:n.1430T>G
ENST00000647152.1:c.221T>G	ENSP00000495893.1:p.Leu74Arg
ENST00000647209.1:c.*819T>G	ENSP00000495558.1:n.*819T>G
ENST00000647346.1:n.1970T>G
ENST00000299427.10:c.950T>G	ENSP00000299427.6:p.Leu317Arg
ENST00000436873.6:c.514T>G	ENSP00000398136.2:p.Cys172Gly
ENST00000533371.5:c.221T>G	ENSP00000437066.1:p.Leu74Arg
ENST00000611494.4:c.950T>G	ENSP00000484546.1:p.Leu317Arg
NM_000391.3:c.950T>G	NP_000382.3:p.Leu317Arg
NM_000391.4:c.950T>G MANE Select	NP_000382.3:p.Leu317Arg