Canonical Allele Identifier: CA472769516

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614639-G-T
• MyVariant Identifiers: chr11:g.6635870G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614639G>T , CM000673.2:g.6614639G>T	GRCh38
NC_000011.9:g.6635870G>T , CM000673.1:g.6635870G>T	GRCh37
NC_000011.8:g.6592446G>T	NCBI36
NG_008653.1:g.9823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1485C>A	ENSP00000507321.1:p.Gly495=
ENST00000299427.12:c.1599C>A MANE Select	ENSP00000299427.6:p.Gly533=
ENST00000524611.2:n.638C>A
ENST00000524924.2:n.719C>A
ENST00000533371.6:c.870C>A	ENSP00000437066.1:p.Gly290=
ENST00000642892.1:c.870C>A	ENSP00000494165.1:p.Gly290=
ENST00000643342.1:c.672C>A
ENST00000643439.1:c.*1339C>A	ENSP00000495849.1:n.*1339C>A
ENST00000643479.1:n.1785C>A
ENST00000643516.1:c.1108C>A
ENST00000644218.1:c.1410C>A	ENSP00000493574.1:p.Gly470=
ENST00000644683.1:c.*1052C>A	ENSP00000494085.1:n.*1052C>A
ENST00000644810.1:c.1320C>A	ENSP00000495895.1:p.Gly440=
ENST00000644831.1:n.1775C>A
ENST00000644933.1:c.*465C>A	ENSP00000496133.1:n.*465C>A
ENST00000645285.1:c.*465C>A	ENSP00000495058.1:n.*465C>A
ENST00000645331.1:n.2804C>A
ENST00000645620.1:c.870C>A	ENSP00000493657.1:p.Gly290=
ENST00000646691.1:n.1486C>A
ENST00000646777.1:n.1932C>A
ENST00000647016.1:n.2079C>A
ENST00000647152.1:c.870C>A	ENSP00000495893.1:p.Gly290=
ENST00000647209.1:c.*1468C>A	ENSP00000495558.1:n.*1468C>A
ENST00000647346.1:n.2619C>A
ENST00000299427.10:c.1599C>A	ENSP00000299427.6:p.Gly533=
ENST00000533371.5:c.870C>A	ENSP00000437066.1:p.Gly290=
ENST00000611494.4:c.1599C>A	ENSP00000484546.1:p.Gly533=
NM_000391.3:c.1599C>A	NP_000382.3:p.Gly533=
NM_000391.4:c.1599C>A MANE Select	NP_000382.3:p.Gly533=