Canonical Allele Identifier: CA379472586

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636440T>C (hg19) ; chr11:g.6615209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615209T>C , CM000673.2:g.6615209T>C	GRCh38
NC_000011.9:g.6636440T>C , CM000673.1:g.6636440T>C	GRCh37
NC_000011.8:g.6593016T>C	NCBI36
NG_008653.1:g.9253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1273A>G	ENSP00000507321.1:p.Ser425Gly
ENST00000299427.12:c.1387A>G MANE Select	ENSP00000299427.6:p.Ser463Gly
ENST00000524611.2:n.247A>G
ENST00000524924.2:n.507A>G
ENST00000533371.6:c.658A>G	ENSP00000437066.1:p.Ser220Gly
ENST00000642892.1:c.658A>G	ENSP00000494165.1:p.Ser220Gly
ENST00000643342.1:c.460A>G
ENST00000643439.1:c.*1127A>G	ENSP00000495849.1:n.*1127A>G
ENST00000643479.1:n.1573A>G
ENST00000643516.1:c.896A>G
ENST00000644218.1:c.1198A>G	ENSP00000493574.1:p.Ser400Gly
ENST00000644683.1:c.*840A>G	ENSP00000494085.1:n.*840A>G
ENST00000644810.1:c.1108A>G	ENSP00000495895.1:p.Ser370Gly
ENST00000644831.1:n.1563A>G
ENST00000644933.1:c.*253A>G	ENSP00000496133.1:n.*253A>G
ENST00000645285.1:c.*253A>G	ENSP00000495058.1:n.*253A>G
ENST00000645331.1:n.2592A>G
ENST00000645620.1:c.658A>G	ENSP00000493657.1:p.Ser220Gly
ENST00000646691.1:n.1274A>G
ENST00000646777.1:n.1720A>G
ENST00000647016.1:n.1867A>G
ENST00000647152.1:c.658A>G	ENSP00000495893.1:p.Ser220Gly
ENST00000647209.1:c.*1256A>G	ENSP00000495558.1:n.*1256A>G
ENST00000647346.1:n.2407A>G
ENST00000299427.10:c.1387A>G	ENSP00000299427.6:p.Ser463Gly
ENST00000524611.1:n.265A>G
ENST00000533371.5:c.658A>G	ENSP00000437066.1:p.Ser220Gly
ENST00000611494.4:c.1387A>G	ENSP00000484546.1:p.Ser463Gly
NM_000391.3:c.1387A>G	NP_000382.3:p.Ser463Gly
NM_000391.4:c.1387A>G MANE Select	NP_000382.3:p.Ser463Gly