Canonical Allele Identifier: CA379472602
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6636447C>T (hg19) chr11:g.6615216C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615216C>T , CM000673.2:g.6615216C>T GRCh38
NC_000011.9:g.6636447C>T , CM000673.1:g.6636447C>T GRCh37
NC_000011.8:g.6593023C>T NCBI36
NG_008653.1:g.9246G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1266G>A ENSP00000507321.1:p.Trp422Ter
ENST00000299427.12:c.1380G>A MANE Select ENSP00000299427.6:p.Trp460Ter
ENST00000524611.2:n.240G>A
ENST00000524924.2:n.500G>A
ENST00000533371.6:c.651G>A ENSP00000437066.1:p.Trp217Ter
ENST00000642892.1:c.651G>A ENSP00000494165.1:p.Trp217Ter
ENST00000643342.1:c.453G>A
ENST00000643439.1:c.*1120G>A ENSP00000495849.1:n.*1120G>A
ENST00000643479.1:n.1566G>A
ENST00000643516.1:c.889G>A
ENST00000644218.1:c.1191G>A ENSP00000493574.1:p.Trp397Ter
ENST00000644683.1:c.*833G>A ENSP00000494085.1:n.*833G>A
ENST00000644810.1:c.1101G>A ENSP00000495895.1:p.Trp367Ter
ENST00000644831.1:n.1556G>A
ENST00000644933.1:c.*246G>A ENSP00000496133.1:n.*246G>A
ENST00000645285.1:c.*246G>A ENSP00000495058.1:n.*246G>A
ENST00000645331.1:n.2585G>A
ENST00000645620.1:c.651G>A ENSP00000493657.1:p.Trp217Ter
ENST00000646691.1:n.1267G>A
ENST00000646777.1:n.1713G>A
ENST00000647016.1:n.1860G>A
ENST00000647152.1:c.651G>A ENSP00000495893.1:p.Trp217Ter
ENST00000647209.1:c.*1249G>A ENSP00000495558.1:n.*1249G>A
ENST00000647346.1:n.2400G>A
ENST00000299427.10:c.1380G>A ENSP00000299427.6:p.Trp460Ter
ENST00000524611.1:n.258G>A
ENST00000532191.1:n.433G>A
ENST00000533371.5:c.651G>A ENSP00000437066.1:p.Trp217Ter
ENST00000611494.4:c.1380G>A ENSP00000484546.1:p.Trp460Ter
NM_000391.3:c.1380G>A NP_000382.3:p.Trp460Ter
NM_000391.4:c.1380G>A MANE Select NP_000382.3:p.Trp460Ter
Search 100 bp 5'
Search 100 bp 3'