Canonical Allele Identifier: CA379474938

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616696C>G , CM000673.2:g.6616696C>G	GRCh38
NC_000011.9:g.6637927C>G , CM000673.1:g.6637927C>G	GRCh37
NC_000011.8:g.6594503C>G	NCBI36
NG_008653.1:g.7766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.737G>C	ENSP00000507321.1:p.Gly246Ala
ENST00000299427.12:c.851G>C MANE Select	ENSP00000299427.6:p.Gly284Ala
ENST00000436873.7:c.312+605G>C
ENST00000524788.2:n.2010G>C
ENST00000524903.2:n.2126G>C
ENST00000528807.2:n.507G>C
ENST00000530040.2:n.480-193G>C
ENST00000533371.6:c.122G>C	ENSP00000437066.1:p.Gly41Ala
ENST00000642892.1:c.122G>C	ENSP00000494165.1:p.Gly41Ala
ENST00000643439.1:c.*591G>C	ENSP00000495849.1:n.*591G>C
ENST00000643479.1:n.880G>C
ENST00000643516.1:c.396-193G>C
ENST00000644151.1:n.2290G>C
ENST00000644218.1:c.851G>C	ENSP00000493574.1:p.Gly284Ala
ENST00000644683.1:c.*304G>C	ENSP00000494085.1:n.*304G>C
ENST00000644810.1:c.572G>C	ENSP00000495895.1:p.Gly191Ala
ENST00000644831.1:n.1027G>C
ENST00000644933.1:c.122G>C	ENSP00000496133.1:p.Gly41Ala
ENST00000645020.1:n.2141G>C
ENST00000645285.1:c.122G>C	ENSP00000495058.1:p.Gly41Ala
ENST00000645331.1:n.1217G>C
ENST00000645620.1:c.122G>C	ENSP00000493657.1:p.Gly41Ala
ENST00000646777.1:n.1027G>C
ENST00000647016.1:n.1331G>C
ENST00000647152.1:c.122G>C	ENSP00000495893.1:p.Gly41Ala
ENST00000647209.1:c.*720G>C	ENSP00000495558.1:n.*720G>C
ENST00000647346.1:n.1871G>C
ENST00000299427.10:c.851G>C	ENSP00000299427.6:p.Gly284Ala
ENST00000436873.6:c.451-193G>C	ENSP00000398136.2:n.451-193G>C
ENST00000524788.1:n.551G>C
ENST00000528807.1:n.401G>C
ENST00000533371.5:c.122G>C	ENSP00000437066.1:p.Gly41Ala
ENST00000611494.4:c.851G>C	ENSP00000484546.1:p.Gly284Ala
NM_000391.3:c.851G>C	NP_000382.3:p.Gly284Ala
NM_000391.4:c.851G>C MANE Select	NP_000382.3:p.Gly284Ala