Canonical Allele Identifier: CA472769359

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635849A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614618A>T , CM000673.2:g.6614618A>T	GRCh38
NC_000011.9:g.6635849A>T , CM000673.1:g.6635849A>T	GRCh37
NC_000011.8:g.6592425A>T	NCBI36
NG_008653.1:g.9844T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1506T>A	ENSP00000507321.1:p.Pro502=
ENST00000299427.12:c.1620T>A MANE Select	ENSP00000299427.6:p.Pro540=
ENST00000524611.2:n.659T>A
ENST00000524924.2:n.740T>A
ENST00000533371.6:c.891T>A	ENSP00000437066.1:p.Pro297=
ENST00000642892.1:c.891T>A	ENSP00000494165.1:p.Pro297=
ENST00000643342.1:c.693T>A
ENST00000643439.1:c.*1360T>A	ENSP00000495849.1:n.*1360T>A
ENST00000643479.1:n.1806T>A
ENST00000643516.1:c.1129T>A
ENST00000644218.1:c.1431T>A	ENSP00000493574.1:p.Pro477=
ENST00000644683.1:c.*1073T>A	ENSP00000494085.1:n.*1073T>A
ENST00000644810.1:c.1341T>A	ENSP00000495895.1:p.Pro447=
ENST00000644831.1:n.1796T>A
ENST00000644933.1:c.*486T>A	ENSP00000496133.1:n.*486T>A
ENST00000645285.1:c.*486T>A	ENSP00000495058.1:n.*486T>A
ENST00000645331.1:n.2825T>A
ENST00000645620.1:c.891T>A	ENSP00000493657.1:p.Pro297=
ENST00000646691.1:n.1507T>A
ENST00000646777.1:n.1953T>A
ENST00000647016.1:n.2100T>A
ENST00000647152.1:c.891T>A	ENSP00000495893.1:p.Pro297=
ENST00000647209.1:c.*1489T>A	ENSP00000495558.1:n.*1489T>A
ENST00000647346.1:n.2640T>A
ENST00000299427.10:c.1620T>A	ENSP00000299427.6:p.Pro540=
ENST00000533371.5:c.891T>A	ENSP00000437066.1:p.Pro297=
ENST00000611494.4:c.1620T>A	ENSP00000484546.1:p.Pro540=
NM_000391.3:c.1620T>A	NP_000382.3:p.Pro540=
NM_000391.4:c.1620T>A MANE Select	NP_000382.3:p.Pro540=