Canonical Allele Identifier: CA472922270

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636465T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615234T>G , CM000673.2:g.6615234T>G	GRCh38
NC_000011.9:g.6636465T>G , CM000673.1:g.6636465T>G	GRCh37
NC_000011.8:g.6593041T>G	NCBI36
NG_008653.1:g.9228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1248A>C	ENSP00000507321.1:p.Ala416=
ENST00000299427.12:c.1362A>C MANE Select	ENSP00000299427.6:p.Ala454=
ENST00000524611.2:n.222A>C
ENST00000524924.2:n.482A>C
ENST00000533371.6:c.633A>C	ENSP00000437066.1:p.Ala211=
ENST00000642892.1:c.633A>C	ENSP00000494165.1:p.Ala211=
ENST00000643342.1:c.435A>C
ENST00000643439.1:c.*1102A>C	ENSP00000495849.1:n.*1102A>C
ENST00000643479.1:n.1548A>C
ENST00000643516.1:c.871A>C
ENST00000644218.1:c.1173A>C	ENSP00000493574.1:p.Ala391=
ENST00000644683.1:c.*815A>C	ENSP00000494085.1:n.*815A>C
ENST00000644810.1:c.1083A>C	ENSP00000495895.1:p.Ala361=
ENST00000644831.1:n.1538A>C
ENST00000644933.1:c.*228A>C	ENSP00000496133.1:n.*228A>C
ENST00000645285.1:c.*228A>C	ENSP00000495058.1:n.*228A>C
ENST00000645331.1:n.2567A>C
ENST00000645620.1:c.633A>C	ENSP00000493657.1:p.Ala211=
ENST00000646691.1:n.1249A>C
ENST00000646777.1:n.1695A>C
ENST00000647016.1:n.1842A>C
ENST00000647152.1:c.633A>C	ENSP00000495893.1:p.Ala211=
ENST00000647209.1:c.*1231A>C	ENSP00000495558.1:n.*1231A>C
ENST00000647346.1:n.2382A>C
ENST00000299427.10:c.1362A>C	ENSP00000299427.6:p.Ala454=
ENST00000524611.1:n.240A>C
ENST00000532191.1:n.415A>C
ENST00000533371.5:c.633A>C	ENSP00000437066.1:p.Ala211=
ENST00000611494.4:c.1362A>C	ENSP00000484546.1:p.Ala454=
NM_000391.3:c.1362A>C	NP_000382.3:p.Ala454=
NM_000391.4:c.1362A>C MANE Select	NP_000382.3:p.Ala454=