Canonical Allele Identifier: CA472922707

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637959G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616728G>T , CM000673.2:g.6616728G>T	GRCh38
NC_000011.9:g.6637959G>T , CM000673.1:g.6637959G>T	GRCh37
NC_000011.8:g.6594535G>T	NCBI36
NG_008653.1:g.7734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.705C>A	ENSP00000507321.1:p.Ala235=
ENST00000299427.12:c.819C>A MANE Select	ENSP00000299427.6:p.Ala273=
ENST00000436873.7:c.312+573C>A
ENST00000524788.2:n.1978C>A
ENST00000524903.2:n.2094C>A
ENST00000528807.2:n.475C>A
ENST00000530040.2:n.480-225C>A
ENST00000533371.6:c.90C>A	ENSP00000437066.1:p.Ala30=
ENST00000642892.1:c.90C>A	ENSP00000494165.1:p.Ala30=
ENST00000643439.1:c.*559C>A	ENSP00000495849.1:n.*559C>A
ENST00000643479.1:n.848C>A
ENST00000643516.1:c.396-225C>A
ENST00000644151.1:n.2258C>A
ENST00000644218.1:c.819C>A	ENSP00000493574.1:p.Ala273=
ENST00000644683.1:c.*272C>A	ENSP00000494085.1:n.*272C>A
ENST00000644810.1:c.540C>A	ENSP00000495895.1:p.Ala180=
ENST00000644831.1:n.995C>A
ENST00000644933.1:c.90C>A	ENSP00000496133.1:p.Ala30=
ENST00000645020.1:n.2109C>A
ENST00000645285.1:c.90C>A	ENSP00000495058.1:p.Ala30=
ENST00000645331.1:n.1185C>A
ENST00000645620.1:c.90C>A	ENSP00000493657.1:p.Ala30=
ENST00000646777.1:n.995C>A
ENST00000647016.1:n.1299C>A
ENST00000647152.1:c.90C>A	ENSP00000495893.1:p.Ala30=
ENST00000647209.1:c.*688C>A	ENSP00000495558.1:n.*688C>A
ENST00000647346.1:n.1839C>A
ENST00000299427.10:c.819C>A	ENSP00000299427.6:p.Ala273=
ENST00000436873.6:c.451-225C>A	ENSP00000398136.2:n.451-225C>A
ENST00000524788.1:n.519C>A
ENST00000528807.1:n.369C>A
ENST00000533371.5:c.90C>A	ENSP00000437066.1:p.Ala30=
ENST00000611494.4:c.819C>A	ENSP00000484546.1:p.Ala273=
NM_000391.3:c.819C>A	NP_000382.3:p.Ala273=
NM_000391.4:c.819C>A MANE Select	NP_000382.3:p.Ala273=