Canonical Allele Identifier: CA379472743

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636512A>T (hg19) ; chr11:g.6615281A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615281A>T , CM000673.2:g.6615281A>T	GRCh38
NC_000011.9:g.6636512A>T , CM000673.1:g.6636512A>T	GRCh37
NC_000011.8:g.6593088A>T	NCBI36
NG_008653.1:g.9181T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1201T>A	ENSP00000507321.1:p.Ser401Thr
ENST00000299427.12:c.1315T>A MANE Select	ENSP00000299427.6:p.Ser439Thr
ENST00000524611.2:n.175T>A
ENST00000524924.2:n.435T>A
ENST00000533371.6:c.586T>A	ENSP00000437066.1:p.Ser196Thr
ENST00000642892.1:c.586T>A	ENSP00000494165.1:p.Ser196Thr
ENST00000643342.1:c.388T>A
ENST00000643439.1:c.*1055T>A	ENSP00000495849.1:n.*1055T>A
ENST00000643479.1:n.1501T>A
ENST00000643516.1:c.824T>A
ENST00000644218.1:c.1126T>A	ENSP00000493574.1:p.Ser376Thr
ENST00000644683.1:c.*768T>A	ENSP00000494085.1:n.*768T>A
ENST00000644810.1:c.1036T>A	ENSP00000495895.1:p.Ser346Thr
ENST00000644831.1:n.1491T>A
ENST00000644933.1:c.*181T>A	ENSP00000496133.1:n.*181T>A
ENST00000645285.1:c.*181T>A	ENSP00000495058.1:n.*181T>A
ENST00000645331.1:n.2520T>A
ENST00000645620.1:c.586T>A	ENSP00000493657.1:p.Ser196Thr
ENST00000646691.1:n.1202T>A
ENST00000646777.1:n.1648T>A
ENST00000647016.1:n.1795T>A
ENST00000647152.1:c.586T>A	ENSP00000495893.1:p.Ser196Thr
ENST00000647209.1:c.*1184T>A	ENSP00000495558.1:n.*1184T>A
ENST00000647346.1:n.2335T>A
ENST00000299427.10:c.1315T>A	ENSP00000299427.6:p.Ser439Thr
ENST00000524611.1:n.193T>A
ENST00000524924.1:n.270T>A
ENST00000532191.1:n.368T>A
ENST00000533371.5:c.586T>A	ENSP00000437066.1:p.Ser196Thr
ENST00000611494.4:c.1315T>A	ENSP00000484546.1:p.Ser439Thr
NM_000391.3:c.1315T>A	NP_000382.3:p.Ser439Thr
NM_000391.4:c.1315T>A MANE Select	NP_000382.3:p.Ser439Thr