Canonical Allele Identifier: CA1950237844
Community Standard Title: NM_000391.4(TPP1):c.622C= (p.Arg208=)
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617040G= , CM000673.2:g.6617040G= GRCh38
NC_000011.9:g.6638271G= , CM000673.1:g.6638271G= GRCh37
NC_000011.8:g.6594847G= NCBI36
NG_008653.1:g.7422C=

Transcript Alleles

HGVS Amino-acid Change
NM_000391.4:c.622C= MANE Select NP_000382.3:p.Arg208=
ENST00000299427.12:c.622C= MANE Select ENSP00000299427.6:p.Arg208=
NM_000391.3:c.622C= NP_000382.3:p.Arg208=
ENST00000299427.10:c.622C= ENSP00000299427.6:p.Arg208=
ENST00000428886.6:n.791C=
ENST00000436873.6:c.450+319C= ENSP00000398136.2:n.450+319C=
ENST00000436873.7:c.312+261C=
ENST00000524788.1:n.322C=
ENST00000524788.2:n.1781C=
ENST00000524903.2:n.1897C=
ENST00000528571.5:c.*362C= ENSP00000434647.1:n.*362C=
ENST00000528807.1:n.172C=
ENST00000528807.2:n.278C=
ENST00000530040.2:n.479+319C=
ENST00000533371.5:c.-108C= ENSP00000437066.1:n.-108C=
ENST00000533371.6:c.-108C= ENSP00000437066.1:n.-108C=
ENST00000534644.5:n.607C=
ENST00000534644.6:n.570C=
ENST00000611494.4:c.622C= ENSP00000484546.1:p.Arg208=
ENST00000642892.1:c.-108C= ENSP00000494165.1:n.-108C=
ENST00000643439.1:c.*362C= ENSP00000495849.1:n.*362C=
ENST00000643479.1:n.651C=
ENST00000643516.1:c.395+261C=
ENST00000644151.1:n.2061C=
ENST00000644218.1:c.622C= ENSP00000493574.1:p.Arg208=
ENST00000644683.1:c.*75C= ENSP00000494085.1:n.*75C=
ENST00000644810.1:c.343C= ENSP00000495895.1:p.Arg115=
ENST00000644831.1:n.798C=
ENST00000644933.1:c.-108C= ENSP00000496133.1:n.-108C=
ENST00000645020.1:n.1797C=
ENST00000645285.1:c.-108C= ENSP00000495058.1:n.-108C=
ENST00000645331.1:n.988C=
ENST00000645620.1:c.-108C= ENSP00000493657.1:n.-108C=
ENST00000646777.1:n.798C=
ENST00000647016.1:n.1102C=
ENST00000647152.1:c.-108C= ENSP00000495893.1:n.-108C=
ENST00000647209.1:c.*491C= ENSP00000495558.1:n.*491C=
ENST00000647346.1:n.1642C=
ENST00000682424.1:c.508C= ENSP00000507321.1:p.Arg170=