Canonical Allele Identifier: CA472768899

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635780G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614549G>T , CM000673.2:g.6614549G>T	GRCh38
NC_000011.9:g.6635780G>T , CM000673.1:g.6635780G>T	GRCh37
NC_000011.8:g.6592356G>T	NCBI36
NG_008653.1:g.9913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1575C>A	ENSP00000507321.1:p.Pro525=
ENST00000299427.12:c.1689C>A MANE Select	ENSP00000299427.6:p.Pro563=
ENST00000524611.2:n.728C>A
ENST00000533371.6:c.960C>A	ENSP00000437066.1:p.Pro320=
ENST00000642892.1:c.960C>A	ENSP00000494165.1:p.Pro320=
ENST00000643342.1:c.762C>A
ENST00000643439.1:c.*1429C>A	ENSP00000495849.1:n.*1429C>A
ENST00000643479.1:n.1875C>A
ENST00000643516.1:c.1198C>A
ENST00000644218.1:c.1500C>A	ENSP00000493574.1:p.Pro500=
ENST00000644683.1:c.*1142C>A	ENSP00000494085.1:n.*1142C>A
ENST00000644810.1:c.1410C>A	ENSP00000495895.1:p.Pro470=
ENST00000644831.1:n.1865C>A
ENST00000644933.1:c.*555C>A	ENSP00000496133.1:n.*555C>A
ENST00000645285.1:c.*555C>A	ENSP00000495058.1:n.*555C>A
ENST00000645331.1:n.2894C>A
ENST00000645620.1:c.960C>A	ENSP00000493657.1:p.Pro320=
ENST00000646691.1:n.1576C>A
ENST00000646777.1:n.2022C>A
ENST00000647016.1:n.2169C>A
ENST00000647152.1:c.960C>A	ENSP00000495893.1:p.Pro320=
ENST00000647209.1:c.*1558C>A	ENSP00000495558.1:n.*1558C>A
ENST00000647346.1:n.2709C>A
ENST00000299427.10:c.1689C>A	ENSP00000299427.6:p.Pro563=
ENST00000533371.5:c.960C>A	ENSP00000437066.1:p.Pro320=
ENST00000611494.4:c.*17C>A	ENSP00000484546.1:n.*17C>A
NM_000391.3:c.1689C>A	NP_000382.3:p.Pro563=
NM_000391.4:c.1689C>A MANE Select	NP_000382.3:p.Pro563=