Canonical Allele Identifier: CA379477089
Community Standard Title: NM_000391.4(TPP1):c.17+1G>A
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6619383C>T , CM000673.2:g.6619383C>T GRCh38
NC_000011.9:g.6640614C>T , CM000673.1:g.6640614C>T GRCh37
NC_000011.8:g.6597190C>T NCBI36
NG_008653.1:g.5079G>A
NG_033858.1:g.41467G>A
NG_033858.2:g.41467G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000391.4:c.17+1G>A MANE Select NP_000382.3:n.17+1G>A
ENST00000299427.12:c.17+1G>A MANE Select ENSP00000299427.6:n.17+1G>A
NM_000391.3:c.17+1G>A NP_000382.3:n.17+1G>A
ENST00000299427.10:c.17+1G>A ENSP00000299427.6:n.17+1G>A
ENST00000428886.6:n.39+1G>A
ENST00000436873.6:c.17+1G>A ENSP00000398136.2:n.17+1G>A
ENST00000524788.2:n.30+1G>A
ENST00000524903.2:n.31G>A
ENST00000528571.5:c.17+1G>A ENSP00000434647.1:n.17+1G>A
ENST00000528571.6:c.17+1G>A ENSP00000434647.1:n.17+1G>A
ENST00000528657.1:c.17+1G>A ENSP00000435001.1:n.17+1G>A
ENST00000528657.2:c.17+1G>A ENSP00000435001.1:n.17+1G>A
ENST00000528917.1:n.38+1G>A
ENST00000530040.1:n.14G>A
ENST00000530040.2:n.46+1G>A
ENST00000531754.1:n.65+1G>A
ENST00000531754.2:c.17+1G>A ENSP00000493706.1:n.17+1G>A
ENST00000533371.6:c.-828G>A ENSP00000437066.1:n.-828G>A
ENST00000534644.5:n.27G>A
ENST00000534644.6:n.18+1G>A
ENST00000611494.4:c.17+1G>A ENSP00000484546.1:n.17+1G>A
ENST00000643439.1:c.17+1G>A ENSP00000495849.1:n.17+1G>A
ENST00000643479.1:n.46+1G>A
ENST00000644151.1:n.30+1G>A
ENST00000644218.1:c.17+1G>A ENSP00000493574.1:n.17+1G>A
ENST00000644683.1:c.17+1G>A ENSP00000494085.1:n.17+1G>A
ENST00000644810.1:c.17+1G>A ENSP00000495895.1:n.17+1G>A
ENST00000644831.1:n.46+1G>A
ENST00000645020.1:n.46+1G>A
ENST00000645331.1:n.39+1G>A
ENST00000646777.1:n.46+1G>A
ENST00000647152.1:c.-688G>A ENSP00000495893.1:n.-688G>A
ENST00000647209.1:c.17+1G>A ENSP00000495558.1:n.17+1G>A
ENST00000647346.1:n.38+1G>A
ENST00000682424.1:c.22+23G>A ENSP00000507321.1:n.22+23G>A