Canonical Allele Identifier: CA472772849

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637241G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616010G>C , CM000673.2:g.6616010G>C	GRCh38
NC_000011.9:g.6637241G>C , CM000673.1:g.6637241G>C	GRCh37
NC_000011.8:g.6593817G>C	NCBI36
NG_008653.1:g.8452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1026C>G	ENSP00000507321.1:p.Ala342=
ENST00000299427.12:c.1140C>G MANE Select	ENSP00000299427.6:p.Ala380=
ENST00000436873.7:c.377C>G
ENST00000524924.2:n.260C>G
ENST00000533371.6:c.411C>G	ENSP00000437066.1:p.Ala137=
ENST00000642892.1:c.411C>G	ENSP00000494165.1:p.Ala137=
ENST00000643342.1:c.230C>G
ENST00000643439.1:c.*880C>G	ENSP00000495849.1:n.*880C>G
ENST00000643479.1:n.1326C>G
ENST00000643516.1:c.649C>G
ENST00000644218.1:c.951C>G	ENSP00000493574.1:p.Ala317=
ENST00000644683.1:c.*593C>G	ENSP00000494085.1:n.*593C>G
ENST00000644810.1:c.861C>G	ENSP00000495895.1:p.Ala287=
ENST00000644831.1:n.1316C>G
ENST00000644933.1:c.411C>G	ENSP00000496133.1:p.Ala137=
ENST00000645285.1:c.222C>G	ENSP00000495058.1:p.Ala74=
ENST00000645331.1:n.1903C>G
ENST00000645620.1:c.411C>G	ENSP00000493657.1:p.Ala137=
ENST00000646691.1:n.473C>G
ENST00000646777.1:n.1473C>G
ENST00000647016.1:n.1620C>G
ENST00000647152.1:c.411C>G	ENSP00000495893.1:p.Ala137=
ENST00000647209.1:c.*1009C>G	ENSP00000495558.1:n.*1009C>G
ENST00000647346.1:n.2160C>G
ENST00000299427.10:c.1140C>G	ENSP00000299427.6:p.Ala380=
ENST00000524924.1:n.95C>G
ENST00000533371.5:c.411C>G	ENSP00000437066.1:p.Ala137=
ENST00000611494.4:c.1140C>G	ENSP00000484546.1:p.Ala380=
NM_000391.3:c.1140C>G	NP_000382.3:p.Ala380=
NM_000391.4:c.1140C>G MANE Select	NP_000382.3:p.Ala380=