Canonical Allele Identifier: CA379475440
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617040-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.508C>G ENSP00000507321.1:p.Arg170Gly
ENST00000299427.12:c.622C>G MANE Select ENSP00000299427.6:p.Arg208Gly
ENST00000436873.7:c.312+261C>G
ENST00000524788.2:n.1781C>G
ENST00000524903.2:n.1897C>G
ENST00000528807.2:n.278C>G
ENST00000530040.2:n.479+319C>G
ENST00000533371.6:c.-108C>G ENSP00000437066.1:n.-108C>G
ENST00000534644.6:n.570C>G
ENST00000642892.1:c.-108C>G ENSP00000494165.1:n.-108C>G
ENST00000643439.1:c.*362C>G ENSP00000495849.1:n.*362C>G
ENST00000643479.1:n.651C>G
ENST00000643516.1:c.395+261C>G
ENST00000644151.1:n.2061C>G
ENST00000644218.1:c.622C>G ENSP00000493574.1:p.Arg208Gly
ENST00000644683.1:c.*75C>G ENSP00000494085.1:n.*75C>G
ENST00000644810.1:c.343C>G ENSP00000495895.1:p.Arg115Gly
ENST00000644831.1:n.798C>G
ENST00000644933.1:c.-108C>G ENSP00000496133.1:n.-108C>G
ENST00000645020.1:n.1797C>G
ENST00000645285.1:c.-108C>G ENSP00000495058.1:n.-108C>G
ENST00000645331.1:n.988C>G
ENST00000645620.1:c.-108C>G ENSP00000493657.1:n.-108C>G
ENST00000646777.1:n.798C>G
ENST00000647016.1:n.1102C>G
ENST00000647152.1:c.-108C>G ENSP00000495893.1:n.-108C>G
ENST00000647209.1:c.*491C>G ENSP00000495558.1:n.*491C>G
ENST00000647346.1:n.1642C>G
ENST00000299427.10:c.622C>G ENSP00000299427.6:p.Arg208Gly
ENST00000428886.6:n.791C>G
ENST00000436873.6:c.450+319C>G ENSP00000398136.2:n.450+319C>G
ENST00000524788.1:n.322C>G
ENST00000528571.5:c.*362C>G ENSP00000434647.1:n.*362C>G
ENST00000528807.1:n.172C>G
ENST00000533371.5:c.-108C>G ENSP00000437066.1:n.-108C>G
ENST00000534644.5:n.607C>G
ENST00000611494.4:c.622C>G ENSP00000484546.1:p.Arg208Gly
NM_000391.3:c.622C>G NP_000382.3:p.Arg208Gly
NM_000391.4:c.622C>G MANE Select NP_000382.3:p.Arg208Gly