Canonical Allele Identifier: CA379474153

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616374C>A , CM000673.2:g.6616374C>A	GRCh38
NC_000011.9:g.6637605C>A , CM000673.1:g.6637605C>A	GRCh37
NC_000011.8:g.6594181C>A	NCBI36
NG_008653.1:g.8088G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1016G>T MANE Select	NP_000382.3:p.Arg339Leu
ENST00000299427.12:c.1016G>T MANE Select	ENSP00000299427.6:p.Arg339Leu
NM_000391.3:c.1016G>T	NP_000382.3:p.Arg339Leu
ENST00000299427.10:c.1016G>T	ENSP00000299427.6:p.Arg339Leu
ENST00000436873.7:c.313-300G>T
ENST00000533371.5:c.287G>T	ENSP00000437066.1:p.Arg96Leu
ENST00000533371.6:c.287G>T	ENSP00000437066.1:p.Arg96Leu
ENST00000611494.4:c.1016G>T	ENSP00000484546.1:p.Arg339Leu
ENST00000642892.1:c.287G>T	ENSP00000494165.1:p.Arg96Leu
ENST00000643342.1:c.106G>T
ENST00000643439.1:c.*756G>T	ENSP00000495849.1:n.*756G>T
ENST00000643479.1:n.1202G>T
ENST00000643516.1:c.525G>T
ENST00000644218.1:c.886+287G>T	ENSP00000493574.1:n.886+287G>T
ENST00000644683.1:c.*469G>T	ENSP00000494085.1:n.*469G>T
ENST00000644810.1:c.737G>T	ENSP00000495895.1:p.Arg246Leu
ENST00000644831.1:n.1192G>T
ENST00000644933.1:c.287G>T	ENSP00000496133.1:p.Arg96Leu
ENST00000645285.1:c.157+287G>T	ENSP00000495058.1:n.157+287G>T
ENST00000645331.1:n.1539G>T
ENST00000645620.1:c.287G>T	ENSP00000493657.1:p.Arg96Leu
ENST00000646691.1:n.109G>T
ENST00000646777.1:n.1349G>T
ENST00000647016.1:n.1496G>T
ENST00000647152.1:c.287G>T	ENSP00000495893.1:p.Arg96Leu
ENST00000647209.1:c.*885G>T	ENSP00000495558.1:n.*885G>T
ENST00000647346.1:n.2036G>T
ENST00000682424.1:c.902G>T	ENSP00000507321.1:p.Arg301Leu