Canonical Allele Identifier: CA472923039
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638964T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617733T>A , CM000673.2:g.6617733T>A GRCh38
NC_000011.9:g.6638964T>A , CM000673.1:g.6638964T>A GRCh37
NC_000011.8:g.6595540T>A NCBI36
NG_008653.1:g.6729A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.159A>T ENSP00000507321.1:p.Pro53=
ENST00000299427.12:c.273A>T MANE Select ENSP00000299427.6:p.Pro91=
ENST00000428886.7:n.361A>T
ENST00000436873.7:c.77A>T
ENST00000524788.2:n.1285A>T
ENST00000524903.2:n.1401A>T
ENST00000528571.6:c.*13A>T ENSP00000434647.1:n.*13A>T
ENST00000530040.2:n.302A>T
ENST00000533371.6:c.-457A>T ENSP00000437066.1:n.-457A>T
ENST00000534644.6:n.274A>T
ENST00000642892.1:c.-404A>T ENSP00000494165.1:n.-404A>T
ENST00000643439.1:c.*13A>T ENSP00000495849.1:n.*13A>T
ENST00000643479.1:n.302A>T
ENST00000643516.1:c.160A>T
ENST00000644151.1:n.1565A>T
ENST00000644218.1:c.273A>T ENSP00000493574.1:p.Pro91=
ENST00000644683.1:c.273A>T ENSP00000494085.1:p.Pro91=
ENST00000644810.1:c.230-580A>T ENSP00000495895.1:n.230-580A>T
ENST00000644831.1:n.302A>T
ENST00000644933.1:c.-457A>T ENSP00000496133.1:n.-457A>T
ENST00000645020.1:n.1301A>T
ENST00000645285.1:c.-457A>T ENSP00000495058.1:n.-457A>T
ENST00000645331.1:n.295A>T
ENST00000645620.1:c.-399A>T ENSP00000493657.1:n.-399A>T
ENST00000646777.1:n.302A>T
ENST00000647016.1:n.606A>T
ENST00000647152.1:c.-457A>T ENSP00000495893.1:n.-457A>T
ENST00000647209.1:c.*142A>T ENSP00000495558.1:n.*142A>T
ENST00000647346.1:n.1293A>T
ENST00000299427.10:c.273A>T ENSP00000299427.6:p.Pro91=
ENST00000428886.6:n.295A>T
ENST00000436873.6:c.273A>T ENSP00000398136.2:p.Pro91=
ENST00000528571.5:c.*13A>T ENSP00000434647.1:n.*13A>T
ENST00000530040.1:n.385A>T
ENST00000533371.5:c.-457A>T ENSP00000437066.1:n.-457A>T
ENST00000534644.5:n.258A>T
ENST00000611494.4:c.273A>T ENSP00000484546.1:p.Pro91=
NM_000391.3:c.273A>T NP_000382.3:p.Pro91=
NM_000391.4:c.273A>T MANE Select NP_000382.3:p.Pro91=