Canonical Allele Identifier: CA379473072

Gene: TPP1

Linked Data

• dbSNP Id: rs1855567234
• MyVariant Identifiers: chr11:g.6636757C>A (hg19) ; chr11:g.6615526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615526C>A , CM000673.2:g.6615526C>A	GRCh38
NC_000011.9:g.6636757C>A , CM000673.1:g.6636757C>A	GRCh37
NC_000011.8:g.6593333C>A	NCBI36
NG_008653.1:g.8936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1068G>T	ENSP00000507321.1:p.Gln356His
ENST00000299427.12:c.1182G>T MANE Select	ENSP00000299427.6:p.Gln394His
ENST00000436873.7:c.419G>T
ENST00000524924.2:n.302G>T
ENST00000533371.6:c.453G>T	ENSP00000437066.1:p.Gln151His
ENST00000642892.1:c.453G>T	ENSP00000494165.1:p.Gln151His
ENST00000643342.1:c.255G>T
ENST00000643439.1:c.*922G>T	ENSP00000495849.1:n.*922G>T
ENST00000643479.1:n.1368G>T
ENST00000643516.1:c.691G>T
ENST00000644218.1:c.993G>T	ENSP00000493574.1:p.Gln331His
ENST00000644683.1:c.*635G>T	ENSP00000494085.1:n.*635G>T
ENST00000644810.1:c.903G>T	ENSP00000495895.1:p.Gln301His
ENST00000644831.1:n.1358G>T
ENST00000644933.1:c.*48G>T	ENSP00000496133.1:n.*48G>T
ENST00000645285.1:c.*48G>T	ENSP00000495058.1:n.*48G>T
ENST00000645331.1:n.2387G>T
ENST00000645620.1:c.453G>T	ENSP00000493657.1:p.Gln151His
ENST00000646691.1:n.957G>T
ENST00000646777.1:n.1515G>T
ENST00000647016.1:n.1662G>T
ENST00000647152.1:c.453G>T	ENSP00000495893.1:p.Gln151His
ENST00000647209.1:c.*1051G>T	ENSP00000495558.1:n.*1051G>T
ENST00000647346.1:n.2202G>T
ENST00000299427.10:c.1182G>T	ENSP00000299427.6:p.Gln394His
ENST00000524924.1:n.137G>T
ENST00000532191.1:n.235G>T
ENST00000533371.5:c.453G>T	ENSP00000437066.1:p.Gln151His
ENST00000611494.4:c.1182G>T	ENSP00000484546.1:p.Gln394His
NM_000391.3:c.1182G>T	NP_000382.3:p.Gln394His
NM_000391.4:c.1182G>T MANE Select	NP_000382.3:p.Gln394His