Canonical Allele Identifier: CA472922814

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638338A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617107A>G , CM000673.2:g.6617107A>G	GRCh38
NC_000011.9:g.6638338A>G , CM000673.1:g.6638338A>G	GRCh37
NC_000011.8:g.6594914A>G	NCBI36
NG_008653.1:g.7355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.441T>C	ENSP00000507321.1:p.Arg147=
ENST00000299427.12:c.555T>C MANE Select	ENSP00000299427.6:p.Arg185=
ENST00000428886.7:n.790T>C
ENST00000436873.7:c.312+194T>C
ENST00000524788.2:n.1714T>C
ENST00000524903.2:n.1830T>C
ENST00000528807.2:n.211T>C
ENST00000530040.2:n.479+252T>C
ENST00000533371.6:c.-175T>C	ENSP00000437066.1:n.-175T>C
ENST00000534644.6:n.503T>C
ENST00000642892.1:c.-175T>C	ENSP00000494165.1:n.-175T>C
ENST00000643439.1:c.*295T>C	ENSP00000495849.1:n.*295T>C
ENST00000643479.1:n.584T>C
ENST00000643516.1:c.395+194T>C
ENST00000644151.1:n.1994T>C
ENST00000644218.1:c.555T>C	ENSP00000493574.1:p.Arg185=
ENST00000644683.1:c.*8T>C	ENSP00000494085.1:n.*8T>C
ENST00000644810.1:c.276T>C	ENSP00000495895.1:p.Arg92=
ENST00000644831.1:n.731T>C
ENST00000644933.1:c.-175T>C	ENSP00000496133.1:n.-175T>C
ENST00000645020.1:n.1730T>C
ENST00000645285.1:c.-175T>C	ENSP00000495058.1:n.-175T>C
ENST00000645331.1:n.921T>C
ENST00000645620.1:c.-175T>C	ENSP00000493657.1:n.-175T>C
ENST00000646777.1:n.731T>C
ENST00000647016.1:n.1035T>C
ENST00000647152.1:c.-175T>C	ENSP00000495893.1:n.-175T>C
ENST00000647209.1:c.*424T>C	ENSP00000495558.1:n.*424T>C
ENST00000647346.1:n.1575T>C
ENST00000299427.10:c.555T>C	ENSP00000299427.6:p.Arg185=
ENST00000428886.6:n.724T>C
ENST00000436873.6:c.450+252T>C	ENSP00000398136.2:n.450+252T>C
ENST00000524788.1:n.255T>C
ENST00000528571.5:c.*295T>C	ENSP00000434647.1:n.*295T>C
ENST00000528807.1:n.105T>C
ENST00000533371.5:c.-175T>C	ENSP00000437066.1:n.-175T>C
ENST00000534644.5:n.540T>C
ENST00000611494.4:c.555T>C	ENSP00000484546.1:p.Arg185=
NM_000391.3:c.555T>C	NP_000382.3:p.Arg185=
NM_000391.4:c.555T>C MANE Select	NP_000382.3:p.Arg185=