Canonical Allele Identifier: CA1950236413
Community Standard Title: NM_000391.4(TPP1):c.1015C= (p.Arg339=)
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616375G= , CM000673.2:g.6616375G= GRCh38
NC_000011.9:g.6637606G= , CM000673.1:g.6637606G= GRCh37
NC_000011.8:g.6594182G= NCBI36
NG_008653.1:g.8087C=

Transcript Alleles

HGVS Amino-acid Change
NM_000391.4:c.1015C= MANE Select NP_000382.3:p.Arg339=
ENST00000299427.12:c.1015C= MANE Select ENSP00000299427.6:p.Arg339=
NM_000391.3:c.1015C= NP_000382.3:p.Arg339=
ENST00000299427.10:c.1015C= ENSP00000299427.6:p.Arg339=
ENST00000436873.7:c.313-301C=
ENST00000533371.5:c.286C= ENSP00000437066.1:p.Arg96=
ENST00000533371.6:c.286C= ENSP00000437066.1:p.Arg96=
ENST00000611494.4:c.1015C= ENSP00000484546.1:p.Arg339=
ENST00000642892.1:c.286C= ENSP00000494165.1:p.Arg96=
ENST00000643342.1:c.105C=
ENST00000643439.1:c.*755C= ENSP00000495849.1:n.*755C=
ENST00000643479.1:n.1201C=
ENST00000643516.1:c.524C=
ENST00000644218.1:c.886+286C= ENSP00000493574.1:n.886+286C=
ENST00000644683.1:c.*468C= ENSP00000494085.1:n.*468C=
ENST00000644810.1:c.736C= ENSP00000495895.1:p.Arg246=
ENST00000644831.1:n.1191C=
ENST00000644933.1:c.286C= ENSP00000496133.1:p.Arg96=
ENST00000645285.1:c.157+286C= ENSP00000495058.1:n.157+286C=
ENST00000645331.1:n.1538C=
ENST00000645620.1:c.286C= ENSP00000493657.1:p.Arg96=
ENST00000646691.1:n.108C=
ENST00000646777.1:n.1348C=
ENST00000647016.1:n.1495C=
ENST00000647152.1:c.286C= ENSP00000495893.1:p.Arg96=
ENST00000647209.1:c.*884C= ENSP00000495558.1:n.*884C=
ENST00000647346.1:n.2035C=
ENST00000682424.1:c.901C= ENSP00000507321.1:p.Arg301=