Canonical Allele Identifier: CA472922288

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636477T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615246T>C , CM000673.2:g.6615246T>C	GRCh38
NC_000011.9:g.6636477T>C , CM000673.1:g.6636477T>C	GRCh37
NC_000011.8:g.6593053T>C	NCBI36
NG_008653.1:g.9216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1236A>G	ENSP00000507321.1:p.Pro412=
ENST00000299427.12:c.1350A>G MANE Select	ENSP00000299427.6:p.Pro450=
ENST00000524611.2:n.210A>G
ENST00000524924.2:n.470A>G
ENST00000533371.6:c.621A>G	ENSP00000437066.1:p.Pro207=
ENST00000642892.1:c.621A>G	ENSP00000494165.1:p.Pro207=
ENST00000643342.1:c.423A>G
ENST00000643439.1:c.*1090A>G	ENSP00000495849.1:n.*1090A>G
ENST00000643479.1:n.1536A>G
ENST00000643516.1:c.859A>G
ENST00000644218.1:c.1161A>G	ENSP00000493574.1:p.Pro387=
ENST00000644683.1:c.*803A>G	ENSP00000494085.1:n.*803A>G
ENST00000644810.1:c.1071A>G	ENSP00000495895.1:p.Pro357=
ENST00000644831.1:n.1526A>G
ENST00000644933.1:c.*216A>G	ENSP00000496133.1:n.*216A>G
ENST00000645285.1:c.*216A>G	ENSP00000495058.1:n.*216A>G
ENST00000645331.1:n.2555A>G
ENST00000645620.1:c.621A>G	ENSP00000493657.1:p.Pro207=
ENST00000646691.1:n.1237A>G
ENST00000646777.1:n.1683A>G
ENST00000647016.1:n.1830A>G
ENST00000647152.1:c.621A>G	ENSP00000495893.1:p.Pro207=
ENST00000647209.1:c.*1219A>G	ENSP00000495558.1:n.*1219A>G
ENST00000647346.1:n.2370A>G
ENST00000299427.10:c.1350A>G	ENSP00000299427.6:p.Pro450=
ENST00000524611.1:n.228A>G
ENST00000532191.1:n.403A>G
ENST00000533371.5:c.621A>G	ENSP00000437066.1:p.Pro207=
ENST00000611494.4:c.1350A>G	ENSP00000484546.1:p.Pro450=
NM_000391.3:c.1350A>G	NP_000382.3:p.Pro450=
NM_000391.4:c.1350A>G MANE Select	NP_000382.3:p.Pro450=