Canonical Allele Identifier: CA934783708

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1551411
• ClinVar RCV Id: RCV002192346
• dbSNP Id: rs1855588508
• gnomAD v3: 11-6616518-T-C
• gnomAD v4: 11-6616518-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616518T>C , CM000673.2:g.6616518T>C	GRCh38
NC_000011.9:g.6637749T>C , CM000673.1:g.6637749T>C	GRCh37
NC_000011.8:g.6594325T>C	NCBI36
NG_008653.1:g.7944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-15A>G	ENSP00000507321.1:n.773-15A>G
ENST00000299427.12:c.887-15A>G MANE Select	ENSP00000299427.6:n.887-15A>G
ENST00000436873.7:c.313-444A>G
ENST00000524903.2:n.2304A>G
ENST00000530040.2:n.480-15A>G
ENST00000533371.6:c.158-15A>G	ENSP00000437066.1:n.158-15A>G
ENST00000642892.1:c.158-15A>G	ENSP00000494165.1:n.158-15A>G
ENST00000643439.1:c.*627-15A>G	ENSP00000495849.1:n.*627-15A>G
ENST00000643479.1:n.1058A>G
ENST00000643516.1:c.396-15A>G
ENST00000644218.1:c.886+143A>G	ENSP00000493574.1:n.886+143A>G
ENST00000644683.1:c.*340-15A>G	ENSP00000494085.1:n.*340-15A>G
ENST00000644810.1:c.608-15A>G	ENSP00000495895.1:n.608-15A>G
ENST00000644831.1:n.1063-15A>G
ENST00000644933.1:c.158-15A>G	ENSP00000496133.1:n.158-15A>G
ENST00000645285.1:c.157+143A>G	ENSP00000495058.1:n.157+143A>G
ENST00000645331.1:n.1395A>G
ENST00000645620.1:c.158-15A>G	ENSP00000493657.1:n.158-15A>G
ENST00000646777.1:n.1205A>G
ENST00000647016.1:n.1367-15A>G
ENST00000647152.1:c.158-15A>G	ENSP00000495893.1:n.158-15A>G
ENST00000647209.1:c.*756-15A>G	ENSP00000495558.1:n.*756-15A>G
ENST00000647346.1:n.1907-15A>G
ENST00000299427.10:c.887-15A>G	ENSP00000299427.6:n.887-15A>G
ENST00000436873.6:c.451-15A>G	ENSP00000398136.2:n.451-15A>G
ENST00000528807.1:n.579A>G
ENST00000533371.5:c.158-15A>G	ENSP00000437066.1:n.158-15A>G
ENST00000611494.4:c.887-15A>G	ENSP00000484546.1:n.887-15A>G
NM_000391.3:c.887-15A>G	NP_000382.3:n.887-15A>G
NM_000391.4:c.887-15A>G MANE Select	NP_000382.3:n.887-15A>G