Canonical Allele Identifier: CA379472516

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636407T>A (hg19) ; chr11:g.6615176T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615176T>A , CM000673.2:g.6615176T>A	GRCh38
NC_000011.9:g.6636407T>A , CM000673.1:g.6636407T>A	GRCh37
NC_000011.8:g.6592983T>A	NCBI36
NG_008653.1:g.9286A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1306A>T	ENSP00000507321.1:p.Thr436Ser
ENST00000299427.12:c.1420A>T MANE Select	ENSP00000299427.6:p.Thr474Ser
ENST00000524611.2:n.280A>T
ENST00000524924.2:n.540A>T
ENST00000533371.6:c.691A>T	ENSP00000437066.1:p.Thr231Ser
ENST00000642892.1:c.691A>T	ENSP00000494165.1:p.Thr231Ser
ENST00000643342.1:c.493A>T
ENST00000643439.1:c.*1160A>T	ENSP00000495849.1:n.*1160A>T
ENST00000643479.1:n.1606A>T
ENST00000643516.1:c.929A>T
ENST00000644218.1:c.1231A>T	ENSP00000493574.1:p.Thr411Ser
ENST00000644683.1:c.*873A>T	ENSP00000494085.1:n.*873A>T
ENST00000644810.1:c.1141A>T	ENSP00000495895.1:p.Thr381Ser
ENST00000644831.1:n.1596A>T
ENST00000644933.1:c.*286A>T	ENSP00000496133.1:n.*286A>T
ENST00000645285.1:c.*286A>T	ENSP00000495058.1:n.*286A>T
ENST00000645331.1:n.2625A>T
ENST00000645620.1:c.691A>T	ENSP00000493657.1:p.Thr231Ser
ENST00000646691.1:n.1307A>T
ENST00000646777.1:n.1753A>T
ENST00000647016.1:n.1900A>T
ENST00000647152.1:c.691A>T	ENSP00000495893.1:p.Thr231Ser
ENST00000647209.1:c.*1289A>T	ENSP00000495558.1:n.*1289A>T
ENST00000647346.1:n.2440A>T
ENST00000299427.10:c.1420A>T	ENSP00000299427.6:p.Thr474Ser
ENST00000524611.1:n.298A>T
ENST00000533371.5:c.691A>T	ENSP00000437066.1:p.Thr231Ser
ENST00000611494.4:c.1420A>T	ENSP00000484546.1:p.Thr474Ser
NM_000391.3:c.1420A>T	NP_000382.3:p.Thr474Ser
NM_000391.4:c.1420A>T MANE Select	NP_000382.3:p.Thr474Ser