Canonical Allele Identifier: CA379473815

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616052C>T , CM000673.2:g.6616052C>T	GRCh38
NC_000011.9:g.6637283C>T , CM000673.1:g.6637283C>T	GRCh37
NC_000011.8:g.6593859C>T	NCBI36
NG_008653.1:g.8410G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1098G>A MANE Select	NP_000382.3:p.Trp366Ter
ENST00000299427.12:c.1098G>A MANE Select	ENSP00000299427.6:p.Trp366Ter
NM_000391.3:c.1098G>A	NP_000382.3:p.Trp366Ter
ENST00000299427.10:c.1098G>A	ENSP00000299427.6:p.Trp366Ter
ENST00000436873.7:c.335G>A
ENST00000524924.1:n.53G>A
ENST00000524924.2:n.218G>A
ENST00000533371.5:c.369G>A	ENSP00000437066.1:p.Trp123Ter
ENST00000533371.6:c.369G>A	ENSP00000437066.1:p.Trp123Ter
ENST00000611494.4:c.1098G>A	ENSP00000484546.1:p.Trp366Ter
ENST00000642892.1:c.369G>A	ENSP00000494165.1:p.Trp123Ter
ENST00000643342.1:c.188G>A
ENST00000643439.1:c.*838G>A	ENSP00000495849.1:n.*838G>A
ENST00000643479.1:n.1284G>A
ENST00000643516.1:c.607G>A
ENST00000644218.1:c.909G>A	ENSP00000493574.1:p.Trp303Ter
ENST00000644683.1:c.*551G>A	ENSP00000494085.1:n.*551G>A
ENST00000644810.1:c.819G>A	ENSP00000495895.1:p.Trp273Ter
ENST00000644831.1:n.1274G>A
ENST00000644933.1:c.369G>A	ENSP00000496133.1:p.Trp123Ter
ENST00000645285.1:c.180G>A	ENSP00000495058.1:p.Trp60Ter
ENST00000645331.1:n.1861G>A
ENST00000645620.1:c.369G>A	ENSP00000493657.1:p.Trp123Ter
ENST00000646691.1:n.431G>A
ENST00000646777.1:n.1431G>A
ENST00000647016.1:n.1578G>A
ENST00000647152.1:c.369G>A	ENSP00000495893.1:p.Trp123Ter
ENST00000647209.1:c.*967G>A	ENSP00000495558.1:n.*967G>A
ENST00000647346.1:n.2118G>A
ENST00000682424.1:c.984G>A	ENSP00000507321.1:p.Trp328Ter