Canonical Allele Identifier: CA379476508

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638959G>C (hg19) ; chr11:g.6617728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617728G>C , CM000673.2:g.6617728G>C	GRCh38
NC_000011.9:g.6638959G>C , CM000673.1:g.6638959G>C	GRCh37
NC_000011.8:g.6595535G>C	NCBI36
NG_008653.1:g.6734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.164C>G	ENSP00000507321.1:p.Pro55Arg
ENST00000299427.12:c.278C>G MANE Select	ENSP00000299427.6:p.Pro93Arg
ENST00000428886.7:n.366C>G
ENST00000436873.7:c.82C>G
ENST00000524788.2:n.1290C>G
ENST00000524903.2:n.1406C>G
ENST00000528571.6:c.*18C>G	ENSP00000434647.1:n.*18C>G
ENST00000530040.2:n.307C>G
ENST00000533371.6:c.-452C>G	ENSP00000437066.1:n.-452C>G
ENST00000534644.6:n.279C>G
ENST00000642892.1:c.-399C>G	ENSP00000494165.1:n.-399C>G
ENST00000643439.1:c.*18C>G	ENSP00000495849.1:n.*18C>G
ENST00000643479.1:n.307C>G
ENST00000643516.1:c.165C>G
ENST00000644151.1:n.1570C>G
ENST00000644218.1:c.278C>G	ENSP00000493574.1:p.Pro93Arg
ENST00000644683.1:c.278C>G	ENSP00000494085.1:p.Pro93Arg
ENST00000644810.1:c.230-575C>G	ENSP00000495895.1:n.230-575C>G
ENST00000644831.1:n.307C>G
ENST00000644933.1:c.-452C>G	ENSP00000496133.1:n.-452C>G
ENST00000645020.1:n.1306C>G
ENST00000645285.1:c.-452C>G	ENSP00000495058.1:n.-452C>G
ENST00000645331.1:n.300C>G
ENST00000645620.1:c.-394C>G	ENSP00000493657.1:n.-394C>G
ENST00000646777.1:n.307C>G
ENST00000647016.1:n.611C>G
ENST00000647152.1:c.-452C>G	ENSP00000495893.1:n.-452C>G
ENST00000647209.1:c.*147C>G	ENSP00000495558.1:n.*147C>G
ENST00000647346.1:n.1298C>G
ENST00000299427.10:c.278C>G	ENSP00000299427.6:p.Pro93Arg
ENST00000428886.6:n.300C>G
ENST00000436873.6:c.278C>G	ENSP00000398136.2:p.Pro93Arg
ENST00000528571.5:c.*18C>G	ENSP00000434647.1:n.*18C>G
ENST00000530040.1:n.390C>G
ENST00000533371.5:c.-452C>G	ENSP00000437066.1:n.-452C>G
ENST00000534644.5:n.263C>G
ENST00000611494.4:c.278C>G	ENSP00000484546.1:p.Pro93Arg
NM_000391.3:c.278C>G	NP_000382.3:p.Pro93Arg
NM_000391.4:c.278C>G MANE Select	NP_000382.3:p.Pro93Arg