Canonical Allele Identifier: CA379472139

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635877A>T (hg19) ; chr11:g.6614646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614646A>T , CM000673.2:g.6614646A>T	GRCh38
NC_000011.9:g.6635877A>T , CM000673.1:g.6635877A>T	GRCh37
NC_000011.8:g.6592453A>T	NCBI36
NG_008653.1:g.9816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1478T>A	ENSP00000507321.1:p.Val493Glu
ENST00000299427.12:c.1592T>A MANE Select	ENSP00000299427.6:p.Val531Glu
ENST00000524611.2:n.631T>A
ENST00000524924.2:n.712T>A
ENST00000533371.6:c.863T>A	ENSP00000437066.1:p.Val288Glu
ENST00000642892.1:c.863T>A	ENSP00000494165.1:p.Val288Glu
ENST00000643342.1:c.665T>A
ENST00000643439.1:c.*1332T>A	ENSP00000495849.1:n.*1332T>A
ENST00000643479.1:n.1778T>A
ENST00000643516.1:c.1101T>A
ENST00000644218.1:c.1403T>A	ENSP00000493574.1:p.Val468Glu
ENST00000644683.1:c.*1045T>A	ENSP00000494085.1:n.*1045T>A
ENST00000644810.1:c.1313T>A	ENSP00000495895.1:p.Val438Glu
ENST00000644831.1:n.1768T>A
ENST00000644933.1:c.*458T>A	ENSP00000496133.1:n.*458T>A
ENST00000645285.1:c.*458T>A	ENSP00000495058.1:n.*458T>A
ENST00000645331.1:n.2797T>A
ENST00000645620.1:c.863T>A	ENSP00000493657.1:p.Val288Glu
ENST00000646691.1:n.1479T>A
ENST00000646777.1:n.1925T>A
ENST00000647016.1:n.2072T>A
ENST00000647152.1:c.863T>A	ENSP00000495893.1:p.Val288Glu
ENST00000647209.1:c.*1461T>A	ENSP00000495558.1:n.*1461T>A
ENST00000647346.1:n.2612T>A
ENST00000299427.10:c.1592T>A	ENSP00000299427.6:p.Val531Glu
ENST00000524611.1:n.470T>A
ENST00000533371.5:c.863T>A	ENSP00000437066.1:p.Val288Glu
ENST00000611494.4:c.1592T>A	ENSP00000484546.1:p.Val531Glu
NM_000391.3:c.1592T>A	NP_000382.3:p.Val531Glu
NM_000391.4:c.1592T>A MANE Select	NP_000382.3:p.Val531Glu