Canonical Allele Identifier: CA379475011

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637958T>C (hg19) ; chr11:g.6616727T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616727T>C , CM000673.2:g.6616727T>C	GRCh38
NC_000011.9:g.6637958T>C , CM000673.1:g.6637958T>C	GRCh37
NC_000011.8:g.6594534T>C	NCBI36
NG_008653.1:g.7735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.706A>G	ENSP00000507321.1:p.Ser236Gly
ENST00000299427.12:c.820A>G MANE Select	ENSP00000299427.6:p.Ser274Gly
ENST00000436873.7:c.312+574A>G
ENST00000524788.2:n.1979A>G
ENST00000524903.2:n.2095A>G
ENST00000528807.2:n.476A>G
ENST00000530040.2:n.480-224A>G
ENST00000533371.6:c.91A>G	ENSP00000437066.1:p.Ser31Gly
ENST00000642892.1:c.91A>G	ENSP00000494165.1:p.Ser31Gly
ENST00000643439.1:c.*560A>G	ENSP00000495849.1:n.*560A>G
ENST00000643479.1:n.849A>G
ENST00000643516.1:c.396-224A>G
ENST00000644151.1:n.2259A>G
ENST00000644218.1:c.820A>G	ENSP00000493574.1:p.Ser274Gly
ENST00000644683.1:c.*273A>G	ENSP00000494085.1:n.*273A>G
ENST00000644810.1:c.541A>G	ENSP00000495895.1:p.Ser181Gly
ENST00000644831.1:n.996A>G
ENST00000644933.1:c.91A>G	ENSP00000496133.1:p.Ser31Gly
ENST00000645020.1:n.2110A>G
ENST00000645285.1:c.91A>G	ENSP00000495058.1:p.Ser31Gly
ENST00000645331.1:n.1186A>G
ENST00000645620.1:c.91A>G	ENSP00000493657.1:p.Ser31Gly
ENST00000646777.1:n.996A>G
ENST00000647016.1:n.1300A>G
ENST00000647152.1:c.91A>G	ENSP00000495893.1:p.Ser31Gly
ENST00000647209.1:c.*689A>G	ENSP00000495558.1:n.*689A>G
ENST00000647346.1:n.1840A>G
ENST00000299427.10:c.820A>G	ENSP00000299427.6:p.Ser274Gly
ENST00000436873.6:c.451-224A>G	ENSP00000398136.2:n.451-224A>G
ENST00000524788.1:n.520A>G
ENST00000528807.1:n.370A>G
ENST00000533371.5:c.91A>G	ENSP00000437066.1:p.Ser31Gly
ENST00000611494.4:c.820A>G	ENSP00000484546.1:p.Ser274Gly
NM_000391.3:c.820A>G	NP_000382.3:p.Ser274Gly
NM_000391.4:c.820A>G MANE Select	NP_000382.3:p.Ser274Gly