Canonical Allele Identifier: CA379475125

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638020T>C (hg19) ; chr11:g.6616789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616789T>C , CM000673.2:g.6616789T>C	GRCh38
NC_000011.9:g.6638020T>C , CM000673.1:g.6638020T>C	GRCh37
NC_000011.8:g.6594596T>C	NCBI36
NG_008653.1:g.7673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.644A>G	ENSP00000507321.1:p.His215Arg
ENST00000299427.12:c.758A>G MANE Select	ENSP00000299427.6:p.His253Arg
ENST00000436873.7:c.312+512A>G
ENST00000524788.2:n.1917A>G
ENST00000524903.2:n.2033A>G
ENST00000528807.2:n.414A>G
ENST00000530040.2:n.480-286A>G
ENST00000533371.6:c.29A>G	ENSP00000437066.1:p.His10Arg
ENST00000642892.1:c.29A>G	ENSP00000494165.1:p.His10Arg
ENST00000643439.1:c.*498A>G	ENSP00000495849.1:n.*498A>G
ENST00000643479.1:n.787A>G
ENST00000643516.1:c.396-286A>G
ENST00000644151.1:n.2197A>G
ENST00000644218.1:c.758A>G	ENSP00000493574.1:p.His253Arg
ENST00000644683.1:c.*211A>G	ENSP00000494085.1:n.*211A>G
ENST00000644810.1:c.479A>G	ENSP00000495895.1:p.His160Arg
ENST00000644831.1:n.934A>G
ENST00000644933.1:c.29A>G	ENSP00000496133.1:p.His10Arg
ENST00000645020.1:n.2048A>G
ENST00000645285.1:c.29A>G	ENSP00000495058.1:p.His10Arg
ENST00000645331.1:n.1124A>G
ENST00000645620.1:c.29A>G	ENSP00000493657.1:p.His10Arg
ENST00000646777.1:n.934A>G
ENST00000647016.1:n.1238A>G
ENST00000647152.1:c.29A>G	ENSP00000495893.1:p.His10Arg
ENST00000647209.1:c.*627A>G	ENSP00000495558.1:n.*627A>G
ENST00000647346.1:n.1778A>G
ENST00000299427.10:c.758A>G	ENSP00000299427.6:p.His253Arg
ENST00000436873.6:c.451-286A>G	ENSP00000398136.2:n.451-286A>G
ENST00000524788.1:n.458A>G
ENST00000528807.1:n.308A>G
ENST00000533371.5:c.29A>G	ENSP00000437066.1:p.His10Arg
ENST00000611494.4:c.758A>G	ENSP00000484546.1:p.His253Arg
NM_000391.3:c.758A>G	NP_000382.3:p.His253Arg
NM_000391.4:c.758A>G MANE Select	NP_000382.3:p.His253Arg