Canonical Allele Identifier: CA379474660

Gene: TPP1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.904G>C MANE Select	NP_000382.3:p.Glu302Gln
ENST00000299427.12:c.904G>C MANE Select	ENSP00000299427.6:p.Glu302Gln
NM_000391.3:c.904G>C	NP_000382.3:p.Glu302Gln
ENST00000299427.10:c.904G>C	ENSP00000299427.6:p.Glu302Gln
ENST00000436873.6:c.468G>C	ENSP00000398136.2:p.Arg156Ser
ENST00000436873.7:c.313-412G>C
ENST00000530040.2:n.497G>C
ENST00000533371.5:c.175G>C	ENSP00000437066.1:p.Glu59Gln
ENST00000533371.6:c.175G>C	ENSP00000437066.1:p.Glu59Gln
ENST00000611494.4:c.904G>C	ENSP00000484546.1:p.Glu302Gln
ENST00000642892.1:c.175G>C	ENSP00000494165.1:p.Glu59Gln
ENST00000643439.1:c.*644G>C	ENSP00000495849.1:n.*644G>C
ENST00000643479.1:n.1090G>C
ENST00000643516.1:c.413G>C
ENST00000644218.1:c.886+175G>C	ENSP00000493574.1:n.886+175G>C
ENST00000644683.1:c.*357G>C	ENSP00000494085.1:n.*357G>C
ENST00000644810.1:c.625G>C	ENSP00000495895.1:p.Glu209Gln
ENST00000644831.1:n.1080G>C
ENST00000644933.1:c.175G>C	ENSP00000496133.1:p.Glu59Gln
ENST00000645285.1:c.157+175G>C	ENSP00000495058.1:n.157+175G>C
ENST00000645331.1:n.1427G>C
ENST00000645620.1:c.175G>C	ENSP00000493657.1:p.Glu59Gln
ENST00000646777.1:n.1237G>C
ENST00000647016.1:n.1384G>C
ENST00000647152.1:c.175G>C	ENSP00000495893.1:p.Glu59Gln
ENST00000647209.1:c.*773G>C	ENSP00000495558.1:n.*773G>C
ENST00000647346.1:n.1924G>C
ENST00000682424.1:c.790G>C	ENSP00000507321.1:p.Glu264Gln