Canonical Allele Identifier: CA379472608

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636450G>C (hg19) ; chr11:g.6615219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615219G>C , CM000673.2:g.6615219G>C	GRCh38
NC_000011.9:g.6636450G>C , CM000673.1:g.6636450G>C	GRCh37
NC_000011.8:g.6593026G>C	NCBI36
NG_008653.1:g.9243C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1263C>G	ENSP00000507321.1:p.Tyr421Ter
ENST00000299427.12:c.1377C>G MANE Select	ENSP00000299427.6:p.Tyr459Ter
ENST00000524611.2:n.237C>G
ENST00000524924.2:n.497C>G
ENST00000533371.6:c.648C>G	ENSP00000437066.1:p.Tyr216Ter
ENST00000642892.1:c.648C>G	ENSP00000494165.1:p.Tyr216Ter
ENST00000643342.1:c.450C>G
ENST00000643439.1:c.*1117C>G	ENSP00000495849.1:n.*1117C>G
ENST00000643479.1:n.1563C>G
ENST00000643516.1:c.886C>G
ENST00000644218.1:c.1188C>G	ENSP00000493574.1:p.Tyr396Ter
ENST00000644683.1:c.*830C>G	ENSP00000494085.1:n.*830C>G
ENST00000644810.1:c.1098C>G	ENSP00000495895.1:p.Tyr366Ter
ENST00000644831.1:n.1553C>G
ENST00000644933.1:c.*243C>G	ENSP00000496133.1:n.*243C>G
ENST00000645285.1:c.*243C>G	ENSP00000495058.1:n.*243C>G
ENST00000645331.1:n.2582C>G
ENST00000645620.1:c.648C>G	ENSP00000493657.1:p.Tyr216Ter
ENST00000646691.1:n.1264C>G
ENST00000646777.1:n.1710C>G
ENST00000647016.1:n.1857C>G
ENST00000647152.1:c.648C>G	ENSP00000495893.1:p.Tyr216Ter
ENST00000647209.1:c.*1246C>G	ENSP00000495558.1:n.*1246C>G
ENST00000647346.1:n.2397C>G
ENST00000299427.10:c.1377C>G	ENSP00000299427.6:p.Tyr459Ter
ENST00000524611.1:n.255C>G
ENST00000532191.1:n.430C>G
ENST00000533371.5:c.648C>G	ENSP00000437066.1:p.Tyr216Ter
ENST00000611494.4:c.1377C>G	ENSP00000484546.1:p.Tyr459Ter
NM_000391.3:c.1377C>G	NP_000382.3:p.Tyr459Ter
NM_000391.4:c.1377C>G MANE Select	NP_000382.3:p.Tyr459Ter