Canonical Allele Identifier: CA379472508

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636403G>C (hg19) ; chr11:g.6615172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615172G>C , CM000673.2:g.6615172G>C	GRCh38
NC_000011.9:g.6636403G>C , CM000673.1:g.6636403G>C	GRCh37
NC_000011.8:g.6592979G>C	NCBI36
NG_008653.1:g.9290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1310C>G	ENSP00000507321.1:p.Ser437Trp
ENST00000299427.12:c.1424C>G MANE Select	ENSP00000299427.6:p.Ser475Trp
ENST00000524611.2:n.284C>G
ENST00000524924.2:n.544C>G
ENST00000533371.6:c.695C>G	ENSP00000437066.1:p.Ser232Trp
ENST00000642892.1:c.695C>G	ENSP00000494165.1:p.Ser232Trp
ENST00000643342.1:c.497C>G
ENST00000643439.1:c.*1164C>G	ENSP00000495849.1:n.*1164C>G
ENST00000643479.1:n.1610C>G
ENST00000643516.1:c.933C>G
ENST00000644218.1:c.1235C>G	ENSP00000493574.1:p.Ser412Trp
ENST00000644683.1:c.*877C>G	ENSP00000494085.1:n.*877C>G
ENST00000644810.1:c.1145C>G	ENSP00000495895.1:p.Ser382Trp
ENST00000644831.1:n.1600C>G
ENST00000644933.1:c.*290C>G	ENSP00000496133.1:n.*290C>G
ENST00000645285.1:c.*290C>G	ENSP00000495058.1:n.*290C>G
ENST00000645331.1:n.2629C>G
ENST00000645620.1:c.695C>G	ENSP00000493657.1:p.Ser232Trp
ENST00000646691.1:n.1311C>G
ENST00000646777.1:n.1757C>G
ENST00000647016.1:n.1904C>G
ENST00000647152.1:c.695C>G	ENSP00000495893.1:p.Ser232Trp
ENST00000647209.1:c.*1293C>G	ENSP00000495558.1:n.*1293C>G
ENST00000647346.1:n.2444C>G
ENST00000299427.10:c.1424C>G	ENSP00000299427.6:p.Ser475Trp
ENST00000524611.1:n.302C>G
ENST00000533371.5:c.695C>G	ENSP00000437066.1:p.Ser232Trp
ENST00000611494.4:c.1424C>G	ENSP00000484546.1:p.Ser475Trp
NM_000391.3:c.1424C>G	NP_000382.3:p.Ser475Trp
NM_000391.4:c.1424C>G MANE Select	NP_000382.3:p.Ser475Trp