Canonical Allele Identifier: CA472768978

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635791G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614560G>A , CM000673.2:g.6614560G>A	GRCh38
NC_000011.9:g.6635791G>A , CM000673.1:g.6635791G>A	GRCh37
NC_000011.8:g.6592367G>A	NCBI36
NG_008653.1:g.9902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1564C>T	ENSP00000507321.1:p.Leu522=
ENST00000299427.12:c.1678C>T MANE Select	ENSP00000299427.6:p.Leu560=
ENST00000524611.2:n.717C>T
ENST00000533371.6:c.949C>T	ENSP00000437066.1:p.Leu317=
ENST00000642892.1:c.949C>T	ENSP00000494165.1:p.Leu317=
ENST00000643342.1:c.751C>T
ENST00000643439.1:c.*1418C>T	ENSP00000495849.1:n.*1418C>T
ENST00000643479.1:n.1864C>T
ENST00000643516.1:c.1187C>T
ENST00000644218.1:c.1489C>T	ENSP00000493574.1:p.Leu497=
ENST00000644683.1:c.*1131C>T	ENSP00000494085.1:n.*1131C>T
ENST00000644810.1:c.1399C>T	ENSP00000495895.1:p.Leu467=
ENST00000644831.1:n.1854C>T
ENST00000644933.1:c.*544C>T	ENSP00000496133.1:n.*544C>T
ENST00000645285.1:c.*544C>T	ENSP00000495058.1:n.*544C>T
ENST00000645331.1:n.2883C>T
ENST00000645620.1:c.949C>T	ENSP00000493657.1:p.Leu317=
ENST00000646691.1:n.1565C>T
ENST00000646777.1:n.2011C>T
ENST00000647016.1:n.2158C>T
ENST00000647152.1:c.949C>T	ENSP00000495893.1:p.Leu317=
ENST00000647209.1:c.*1547C>T	ENSP00000495558.1:n.*1547C>T
ENST00000647346.1:n.2698C>T
ENST00000299427.10:c.1678C>T	ENSP00000299427.6:p.Leu560=
ENST00000533371.5:c.949C>T	ENSP00000437066.1:p.Leu317=
ENST00000611494.4:c.*6C>T	ENSP00000484546.1:n.*6C>T
NM_000391.3:c.1678C>T	NP_000382.3:p.Leu560=
NM_000391.4:c.1678C>T MANE Select	NP_000382.3:p.Leu560=