Canonical Allele Identifier: CA379474658

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616486C>A , CM000673.2:g.6616486C>A	GRCh38
NC_000011.9:g.6637717C>A , CM000673.1:g.6637717C>A	GRCh37
NC_000011.8:g.6594293C>A	NCBI36
NG_008653.1:g.7976G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.904G>T MANE Select	NP_000382.3:p.Glu302Ter
ENST00000299427.12:c.904G>T MANE Select	ENSP00000299427.6:p.Glu302Ter
NM_000391.3:c.904G>T	NP_000382.3:p.Glu302Ter
ENST00000299427.10:c.904G>T	ENSP00000299427.6:p.Glu302Ter
ENST00000436873.6:c.468G>T	ENSP00000398136.2:p.Arg156Ser
ENST00000436873.7:c.313-412G>T
ENST00000530040.2:n.497G>T
ENST00000533371.5:c.175G>T	ENSP00000437066.1:p.Glu59Ter
ENST00000533371.6:c.175G>T	ENSP00000437066.1:p.Glu59Ter
ENST00000611494.4:c.904G>T	ENSP00000484546.1:p.Glu302Ter
ENST00000642892.1:c.175G>T	ENSP00000494165.1:p.Glu59Ter
ENST00000643439.1:c.*644G>T	ENSP00000495849.1:n.*644G>T
ENST00000643479.1:n.1090G>T
ENST00000643516.1:c.413G>T
ENST00000644218.1:c.886+175G>T	ENSP00000493574.1:n.886+175G>T
ENST00000644683.1:c.*357G>T	ENSP00000494085.1:n.*357G>T
ENST00000644810.1:c.625G>T	ENSP00000495895.1:p.Glu209Ter
ENST00000644831.1:n.1080G>T
ENST00000644933.1:c.175G>T	ENSP00000496133.1:p.Glu59Ter
ENST00000645285.1:c.157+175G>T	ENSP00000495058.1:n.157+175G>T
ENST00000645331.1:n.1427G>T
ENST00000645620.1:c.175G>T	ENSP00000493657.1:p.Glu59Ter
ENST00000646777.1:n.1237G>T
ENST00000647016.1:n.1384G>T
ENST00000647152.1:c.175G>T	ENSP00000495893.1:p.Glu59Ter
ENST00000647209.1:c.*773G>T	ENSP00000495558.1:n.*773G>T
ENST00000647346.1:n.1924G>T
ENST00000682424.1:c.790G>T	ENSP00000507321.1:p.Glu264Ter