Canonical Allele Identifier: CA472772970

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637274A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616043A>C , CM000673.2:g.6616043A>C	GRCh38
NC_000011.9:g.6637274A>C , CM000673.1:g.6637274A>C	GRCh37
NC_000011.8:g.6593850A>C	NCBI36
NG_008653.1:g.8419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.993T>G	ENSP00000507321.1:p.Ser331=
ENST00000299427.12:c.1107T>G MANE Select	ENSP00000299427.6:p.Ser369=
ENST00000436873.7:c.344T>G
ENST00000524924.2:n.227T>G
ENST00000533371.6:c.378T>G	ENSP00000437066.1:p.Ser126=
ENST00000642892.1:c.378T>G	ENSP00000494165.1:p.Ser126=
ENST00000643342.1:c.197T>G
ENST00000643439.1:c.*847T>G	ENSP00000495849.1:n.*847T>G
ENST00000643479.1:n.1293T>G
ENST00000643516.1:c.616T>G
ENST00000644218.1:c.918T>G	ENSP00000493574.1:p.Ser306=
ENST00000644683.1:c.*560T>G	ENSP00000494085.1:n.*560T>G
ENST00000644810.1:c.828T>G	ENSP00000495895.1:p.Ser276=
ENST00000644831.1:n.1283T>G
ENST00000644933.1:c.378T>G	ENSP00000496133.1:p.Ser126=
ENST00000645285.1:c.189T>G	ENSP00000495058.1:p.Ser63=
ENST00000645331.1:n.1870T>G
ENST00000645620.1:c.378T>G	ENSP00000493657.1:p.Ser126=
ENST00000646691.1:n.440T>G
ENST00000646777.1:n.1440T>G
ENST00000647016.1:n.1587T>G
ENST00000647152.1:c.378T>G	ENSP00000495893.1:p.Ser126=
ENST00000647209.1:c.*976T>G	ENSP00000495558.1:n.*976T>G
ENST00000647346.1:n.2127T>G
ENST00000299427.10:c.1107T>G	ENSP00000299427.6:p.Ser369=
ENST00000524924.1:n.62T>G
ENST00000533371.5:c.378T>G	ENSP00000437066.1:p.Ser126=
ENST00000611494.4:c.1107T>G	ENSP00000484546.1:p.Ser369=
NM_000391.3:c.1107T>G	NP_000382.3:p.Ser369=
NM_000391.4:c.1107T>G MANE Select	NP_000382.3:p.Ser369=