Canonical Allele Identifier: CA472922274

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636468A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615237A>C , CM000673.2:g.6615237A>C	GRCh38
NC_000011.9:g.6636468A>C , CM000673.1:g.6636468A>C	GRCh37
NC_000011.8:g.6593044A>C	NCBI36
NG_008653.1:g.9225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1245T>G	ENSP00000507321.1:p.Ala415=
ENST00000299427.12:c.1359T>G MANE Select	ENSP00000299427.6:p.Ala453=
ENST00000524611.2:n.219T>G
ENST00000524924.2:n.479T>G
ENST00000533371.6:c.630T>G	ENSP00000437066.1:p.Ala210=
ENST00000642892.1:c.630T>G	ENSP00000494165.1:p.Ala210=
ENST00000643342.1:c.432T>G
ENST00000643439.1:c.*1099T>G	ENSP00000495849.1:n.*1099T>G
ENST00000643479.1:n.1545T>G
ENST00000643516.1:c.868T>G
ENST00000644218.1:c.1170T>G	ENSP00000493574.1:p.Ala390=
ENST00000644683.1:c.*812T>G	ENSP00000494085.1:n.*812T>G
ENST00000644810.1:c.1080T>G	ENSP00000495895.1:p.Ala360=
ENST00000644831.1:n.1535T>G
ENST00000644933.1:c.*225T>G	ENSP00000496133.1:n.*225T>G
ENST00000645285.1:c.*225T>G	ENSP00000495058.1:n.*225T>G
ENST00000645331.1:n.2564T>G
ENST00000645620.1:c.630T>G	ENSP00000493657.1:p.Ala210=
ENST00000646691.1:n.1246T>G
ENST00000646777.1:n.1692T>G
ENST00000647016.1:n.1839T>G
ENST00000647152.1:c.630T>G	ENSP00000495893.1:p.Ala210=
ENST00000647209.1:c.*1228T>G	ENSP00000495558.1:n.*1228T>G
ENST00000647346.1:n.2379T>G
ENST00000299427.10:c.1359T>G	ENSP00000299427.6:p.Ala453=
ENST00000524611.1:n.237T>G
ENST00000532191.1:n.412T>G
ENST00000533371.5:c.630T>G	ENSP00000437066.1:p.Ala210=
ENST00000611494.4:c.1359T>G	ENSP00000484546.1:p.Ala453=
NM_000391.3:c.1359T>G	NP_000382.3:p.Ala453=
NM_000391.4:c.1359T>G MANE Select	NP_000382.3:p.Ala453=