Canonical Allele Identifier: CA379472647

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636469G>C (hg19) ; chr11:g.6615238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615238G>C , CM000673.2:g.6615238G>C	GRCh38
NC_000011.9:g.6636469G>C , CM000673.1:g.6636469G>C	GRCh37
NC_000011.8:g.6593045G>C	NCBI36
NG_008653.1:g.9224C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1244C>G	ENSP00000507321.1:p.Ala415Gly
ENST00000299427.12:c.1358C>G MANE Select	ENSP00000299427.6:p.Ala453Gly
ENST00000524611.2:n.218C>G
ENST00000524924.2:n.478C>G
ENST00000533371.6:c.629C>G	ENSP00000437066.1:p.Ala210Gly
ENST00000642892.1:c.629C>G	ENSP00000494165.1:p.Ala210Gly
ENST00000643342.1:c.431C>G
ENST00000643439.1:c.*1098C>G	ENSP00000495849.1:n.*1098C>G
ENST00000643479.1:n.1544C>G
ENST00000643516.1:c.867C>G
ENST00000644218.1:c.1169C>G	ENSP00000493574.1:p.Ala390Gly
ENST00000644683.1:c.*811C>G	ENSP00000494085.1:n.*811C>G
ENST00000644810.1:c.1079C>G	ENSP00000495895.1:p.Ala360Gly
ENST00000644831.1:n.1534C>G
ENST00000644933.1:c.*224C>G	ENSP00000496133.1:n.*224C>G
ENST00000645285.1:c.*224C>G	ENSP00000495058.1:n.*224C>G
ENST00000645331.1:n.2563C>G
ENST00000645620.1:c.629C>G	ENSP00000493657.1:p.Ala210Gly
ENST00000646691.1:n.1245C>G
ENST00000646777.1:n.1691C>G
ENST00000647016.1:n.1838C>G
ENST00000647152.1:c.629C>G	ENSP00000495893.1:p.Ala210Gly
ENST00000647209.1:c.*1227C>G	ENSP00000495558.1:n.*1227C>G
ENST00000647346.1:n.2378C>G
ENST00000299427.10:c.1358C>G	ENSP00000299427.6:p.Ala453Gly
ENST00000524611.1:n.236C>G
ENST00000532191.1:n.411C>G
ENST00000533371.5:c.629C>G	ENSP00000437066.1:p.Ala210Gly
ENST00000611494.4:c.1358C>G	ENSP00000484546.1:p.Ala453Gly
NM_000391.3:c.1358C>G	NP_000382.3:p.Ala453Gly
NM_000391.4:c.1358C>G MANE Select	NP_000382.3:p.Ala453Gly