Canonical Allele Identifier: CA217323998

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2285078
• ClinVar RCV Id: RCV002858846
• dbSNP Id: rs930476364
• gnomAD v4: 11-6617394-G-A
• MyVariant Identifiers: chr11:g.6638625G>A (hg19) ; chr11:g.6617394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617394G>A , CM000673.2:g.6617394G>A	GRCh38
NC_000011.9:g.6638625G>A , CM000673.1:g.6638625G>A	GRCh37
NC_000011.8:g.6595201G>A	NCBI36
NG_008653.1:g.7068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.301C>T	ENSP00000507321.1:p.His101Tyr
ENST00000299427.12:c.415C>T MANE Select	ENSP00000299427.6:p.His139Tyr
ENST00000428886.7:n.503C>T
ENST00000436873.7:c.219C>T
ENST00000524788.2:n.1427C>T
ENST00000524903.2:n.1543C>T
ENST00000528571.6:c.*155C>T	ENSP00000434647.1:n.*155C>T
ENST00000528807.2:n.71C>T
ENST00000530040.2:n.444C>T
ENST00000533371.6:c.-315C>T	ENSP00000437066.1:n.-315C>T
ENST00000534644.6:n.416C>T
ENST00000642892.1:c.-262C>T	ENSP00000494165.1:n.-262C>T
ENST00000643439.1:c.*155C>T	ENSP00000495849.1:n.*155C>T
ENST00000643479.1:n.444C>T
ENST00000643516.1:c.302C>T
ENST00000644151.1:n.1707C>T
ENST00000644218.1:c.415C>T	ENSP00000493574.1:p.His139Tyr
ENST00000644683.1:c.415C>T	ENSP00000494085.1:p.His139Tyr
ENST00000644810.1:c.230-241C>T	ENSP00000495895.1:n.230-241C>T
ENST00000644831.1:n.444C>T
ENST00000644933.1:c.-315C>T	ENSP00000496133.1:n.-315C>T
ENST00000645020.1:n.1443C>T
ENST00000645285.1:c.-315C>T	ENSP00000495058.1:n.-315C>T
ENST00000645331.1:n.634C>T
ENST00000645620.1:c.-257C>T	ENSP00000493657.1:n.-257C>T
ENST00000646777.1:n.444C>T
ENST00000647016.1:n.748C>T
ENST00000647152.1:c.-315C>T	ENSP00000495893.1:n.-315C>T
ENST00000647209.1:c.*284C>T	ENSP00000495558.1:n.*284C>T
ENST00000647346.1:n.1435C>T
ENST00000299427.10:c.415C>T	ENSP00000299427.6:p.His139Tyr
ENST00000428886.6:n.437C>T
ENST00000436873.6:c.415C>T	ENSP00000398136.2:p.His139Tyr
ENST00000528571.5:c.*155C>T	ENSP00000434647.1:n.*155C>T
ENST00000530040.1:n.527C>T
ENST00000533371.5:c.-315C>T	ENSP00000437066.1:n.-315C>T
ENST00000534644.5:n.400C>T
ENST00000611494.4:c.415C>T	ENSP00000484546.1:p.His139Tyr
NM_000391.3:c.415C>T	NP_000382.3:p.His139Tyr
NM_000391.4:c.415C>T MANE Select	NP_000382.3:p.His139Tyr