Canonical Allele Identifier: CA379476772

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618842G>C , CM000673.2:g.6618842G>C	GRCh38
NC_000011.9:g.6640073G>C , CM000673.1:g.6640073G>C	GRCh37
NC_000011.8:g.6596649G>C	NCBI36
NG_008653.1:g.5620C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.163C>G MANE Select	NP_000382.3:p.Gln55Glu
ENST00000299427.12:c.163C>G MANE Select	ENSP00000299427.6:p.Gln55Glu
NM_000391.3:c.163C>G	NP_000382.3:p.Gln55Glu
ENST00000299427.10:c.163C>G	ENSP00000299427.6:p.Gln55Glu
ENST00000428886.6:n.185C>G
ENST00000428886.7:n.251C>G
ENST00000436873.6:c.163C>G	ENSP00000398136.2:p.Gln55Glu
ENST00000524788.2:n.176C>G
ENST00000524903.1:n.260C>G
ENST00000524903.2:n.292C>G
ENST00000528571.5:c.89+354C>G	ENSP00000434647.1:n.89+354C>G
ENST00000528571.6:c.89+354C>G	ENSP00000434647.1:n.89+354C>G
ENST00000528657.1:c.*350C>G	ENSP00000435001.1:n.*350C>G
ENST00000528657.2:c.*350C>G	ENSP00000435001.1:n.*350C>G
ENST00000528917.1:n.464C>G
ENST00000530040.1:n.275C>G
ENST00000530040.2:n.192C>G
ENST00000531754.1:n.211C>G
ENST00000531754.2:c.163C>G	ENSP00000493706.1:p.Gln55Glu
ENST00000533371.5:c.-567C>G	ENSP00000437066.1:n.-567C>G
ENST00000533371.6:c.-567C>G	ENSP00000437066.1:n.-567C>G
ENST00000534644.5:n.214+354C>G
ENST00000534644.6:n.164C>G
ENST00000611494.4:c.163C>G	ENSP00000484546.1:p.Gln55Glu
ENST00000642892.1:c.-514C>G	ENSP00000494165.1:n.-514C>G
ENST00000643439.1:c.89+354C>G	ENSP00000495849.1:n.89+354C>G
ENST00000643479.1:n.192C>G
ENST00000643516.1:c.50C>G
ENST00000644151.1:n.456C>G
ENST00000644218.1:c.163C>G	ENSP00000493574.1:p.Gln55Glu
ENST00000644683.1:c.163C>G	ENSP00000494085.1:p.Gln55Glu
ENST00000644810.1:c.163C>G	ENSP00000495895.1:p.Gln55Glu
ENST00000644831.1:n.192C>G
ENST00000644933.1:c.-567C>G	ENSP00000496133.1:n.-567C>G
ENST00000645020.1:n.192C>G
ENST00000645285.1:c.-501+354C>G	ENSP00000495058.1:n.-501+354C>G
ENST00000645331.1:n.185C>G
ENST00000645620.1:c.-509C>G	ENSP00000493657.1:n.-509C>G
ENST00000646777.1:n.192C>G
ENST00000647152.1:c.-501+354C>G	ENSP00000495893.1:n.-501+354C>G
ENST00000647209.1:c.*32C>G	ENSP00000495558.1:n.*32C>G
ENST00000647346.1:n.184C>G
ENST00000682424.1:c.49C>G	ENSP00000507321.1:p.Gln17Glu