Canonical Allele Identifier: CA472769212

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2000919
• ClinVar RCV Id: RCV002802221
• MyVariant Identifiers: chr11:g.6635828G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614597G>C , CM000673.2:g.6614597G>C	GRCh38
NC_000011.9:g.6635828G>C , CM000673.1:g.6635828G>C	GRCh37
NC_000011.8:g.6592404G>C	NCBI36
NG_008653.1:g.9865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1527C>G	ENSP00000507321.1:p.Gly509=
ENST00000299427.12:c.1641C>G MANE Select	ENSP00000299427.6:p.Gly547=
ENST00000524611.2:n.680C>G
ENST00000533371.6:c.912C>G	ENSP00000437066.1:p.Gly304=
ENST00000642892.1:c.912C>G	ENSP00000494165.1:p.Gly304=
ENST00000643342.1:c.714C>G
ENST00000643439.1:c.*1381C>G	ENSP00000495849.1:n.*1381C>G
ENST00000643479.1:n.1827C>G
ENST00000643516.1:c.1150C>G
ENST00000644218.1:c.1452C>G	ENSP00000493574.1:p.Gly484=
ENST00000644683.1:c.*1094C>G	ENSP00000494085.1:n.*1094C>G
ENST00000644810.1:c.1362C>G	ENSP00000495895.1:p.Gly454=
ENST00000644831.1:n.1817C>G
ENST00000644933.1:c.*507C>G	ENSP00000496133.1:n.*507C>G
ENST00000645285.1:c.*507C>G	ENSP00000495058.1:n.*507C>G
ENST00000645331.1:n.2846C>G
ENST00000645620.1:c.912C>G	ENSP00000493657.1:p.Gly304=
ENST00000646691.1:n.1528C>G
ENST00000646777.1:n.1974C>G
ENST00000647016.1:n.2121C>G
ENST00000647152.1:c.912C>G	ENSP00000495893.1:p.Gly304=
ENST00000647209.1:c.*1510C>G	ENSP00000495558.1:n.*1510C>G
ENST00000647346.1:n.2661C>G
ENST00000299427.10:c.1641C>G	ENSP00000299427.6:p.Gly547=
ENST00000533371.5:c.912C>G	ENSP00000437066.1:p.Gly304=
ENST00000611494.4:c.1641C>G	ENSP00000484546.1:p.Gly547=
NM_000391.3:c.1641C>G	NP_000382.3:p.Gly547=
NM_000391.4:c.1641C>G MANE Select	NP_000382.3:p.Gly547=