Canonical Allele Identifier: CA379473132

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636771C>A (hg19) ; chr11:g.6615540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615540C>A , CM000673.2:g.6615540C>A	GRCh38
NC_000011.9:g.6636771C>A , CM000673.1:g.6636771C>A	GRCh37
NC_000011.8:g.6593347C>A	NCBI36
NG_008653.1:g.8922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1054G>T	ENSP00000507321.1:p.Gly352Cys
ENST00000299427.12:c.1168G>T MANE Select	ENSP00000299427.6:p.Gly390Cys
ENST00000436873.7:c.405G>T
ENST00000524924.2:n.288G>T
ENST00000533371.6:c.439G>T	ENSP00000437066.1:p.Gly147Cys
ENST00000642892.1:c.439G>T	ENSP00000494165.1:p.Gly147Cys
ENST00000643342.1:c.241G>T
ENST00000643439.1:c.*908G>T	ENSP00000495849.1:n.*908G>T
ENST00000643479.1:n.1354G>T
ENST00000643516.1:c.677G>T
ENST00000644218.1:c.979G>T	ENSP00000493574.1:p.Gly327Cys
ENST00000644683.1:c.*621G>T	ENSP00000494085.1:n.*621G>T
ENST00000644810.1:c.889G>T	ENSP00000495895.1:p.Gly297Cys
ENST00000644831.1:n.1344G>T
ENST00000644933.1:c.*34G>T	ENSP00000496133.1:n.*34G>T
ENST00000645285.1:c.*34G>T	ENSP00000495058.1:n.*34G>T
ENST00000645331.1:n.2373G>T
ENST00000645620.1:c.439G>T	ENSP00000493657.1:p.Gly147Cys
ENST00000646691.1:n.943G>T
ENST00000646777.1:n.1501G>T
ENST00000647016.1:n.1648G>T
ENST00000647152.1:c.439G>T	ENSP00000495893.1:p.Gly147Cys
ENST00000647209.1:c.*1037G>T	ENSP00000495558.1:n.*1037G>T
ENST00000647346.1:n.2188G>T
ENST00000299427.10:c.1168G>T	ENSP00000299427.6:p.Gly390Cys
ENST00000524924.1:n.123G>T
ENST00000532191.1:n.221G>T
ENST00000533371.5:c.439G>T	ENSP00000437066.1:p.Gly147Cys
ENST00000611494.4:c.1168G>T	ENSP00000484546.1:p.Gly390Cys
NM_000391.3:c.1168G>T	NP_000382.3:p.Gly390Cys
NM_000391.4:c.1168G>T MANE Select	NP_000382.3:p.Gly390Cys