Canonical Allele Identifier: CA2739276194

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2833899
• ClinVar RCV Id: RCV003692225

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616085C>A , CM000673.2:g.6616085C>A	GRCh38
NC_000011.9:g.6637316C>A , CM000673.1:g.6637316C>A	GRCh37
NC_000011.8:g.6593892C>A	NCBI36
NG_008653.1:g.8377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.962-11G>T	ENSP00000507321.1:n.962-11G>T
ENST00000299427.12:c.1076-11G>T MANE Select	ENSP00000299427.6:n.1076-11G>T
ENST00000436873.7:c.313-11G>T
ENST00000524924.2:n.185G>T
ENST00000533371.6:c.347-11G>T	ENSP00000437066.1:n.347-11G>T
ENST00000642892.1:c.347-11G>T	ENSP00000494165.1:n.347-11G>T
ENST00000643342.1:c.166-11G>T
ENST00000643439.1:c.*816-11G>T	ENSP00000495849.1:n.*816-11G>T
ENST00000643479.1:n.1262-11G>T
ENST00000643516.1:c.585-11G>T
ENST00000644218.1:c.887-11G>T	ENSP00000493574.1:n.887-11G>T
ENST00000644683.1:c.*529-11G>T	ENSP00000494085.1:n.*529-11G>T
ENST00000644810.1:c.797-11G>T	ENSP00000495895.1:n.797-11G>T
ENST00000644831.1:n.1252-11G>T
ENST00000644933.1:c.347-11G>T	ENSP00000496133.1:n.347-11G>T
ENST00000645285.1:c.158-11G>T	ENSP00000495058.1:n.158-11G>T
ENST00000645331.1:n.1828G>T
ENST00000645620.1:c.347-11G>T	ENSP00000493657.1:n.347-11G>T
ENST00000646691.1:n.398G>T
ENST00000646777.1:n.1409-11G>T
ENST00000647016.1:n.1556-11G>T
ENST00000647152.1:c.347-11G>T	ENSP00000495893.1:n.347-11G>T
ENST00000647209.1:c.*945-11G>T	ENSP00000495558.1:n.*945-11G>T
ENST00000647346.1:n.2096-11G>T
ENST00000299427.10:c.1076-11G>T	ENSP00000299427.6:n.1076-11G>T
ENST00000524924.1:n.20G>T
ENST00000533371.5:c.347-11G>T	ENSP00000437066.1:n.347-11G>T
ENST00000611494.4:c.1076-11G>T	ENSP00000484546.1:n.1076-11G>T
NM_000391.3:c.1076-11G>T	NP_000382.3:n.1076-11G>T
NM_000391.4:c.1076-11G>T MANE Select	NP_000382.3:n.1076-11G>T