Canonical Allele Identifier: CA2591019566

Gene: TPP1

Linked Data

• gnomAD v3: 11-6616515-T-C
• gnomAD v4: 11-6616515-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616515T>C , CM000673.2:g.6616515T>C	GRCh38
NC_000011.9:g.6637746T>C , CM000673.1:g.6637746T>C	GRCh37
NC_000011.8:g.6594322T>C	NCBI36
NG_008653.1:g.7947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-12A>G	ENSP00000507321.1:n.773-12A>G
ENST00000299427.12:c.887-12A>G MANE Select	ENSP00000299427.6:n.887-12A>G
ENST00000436873.7:c.313-441A>G
ENST00000524903.2:n.2307A>G
ENST00000530040.2:n.480-12A>G
ENST00000533371.6:c.158-12A>G	ENSP00000437066.1:n.158-12A>G
ENST00000642892.1:c.158-12A>G	ENSP00000494165.1:n.158-12A>G
ENST00000643439.1:c.*627-12A>G	ENSP00000495849.1:n.*627-12A>G
ENST00000643479.1:n.1061A>G
ENST00000643516.1:c.396-12A>G
ENST00000644218.1:c.886+146A>G	ENSP00000493574.1:n.886+146A>G
ENST00000644683.1:c.*340-12A>G	ENSP00000494085.1:n.*340-12A>G
ENST00000644810.1:c.608-12A>G	ENSP00000495895.1:n.608-12A>G
ENST00000644831.1:n.1063-12A>G
ENST00000644933.1:c.158-12A>G	ENSP00000496133.1:n.158-12A>G
ENST00000645285.1:c.157+146A>G	ENSP00000495058.1:n.157+146A>G
ENST00000645331.1:n.1398A>G
ENST00000645620.1:c.158-12A>G	ENSP00000493657.1:n.158-12A>G
ENST00000646777.1:n.1208A>G
ENST00000647016.1:n.1367-12A>G
ENST00000647152.1:c.158-12A>G	ENSP00000495893.1:n.158-12A>G
ENST00000647209.1:c.*756-12A>G	ENSP00000495558.1:n.*756-12A>G
ENST00000647346.1:n.1907-12A>G
ENST00000299427.10:c.887-12A>G	ENSP00000299427.6:n.887-12A>G
ENST00000436873.6:c.451-12A>G	ENSP00000398136.2:n.451-12A>G
ENST00000528807.1:n.582A>G
ENST00000533371.5:c.158-12A>G	ENSP00000437066.1:n.158-12A>G
ENST00000611494.4:c.887-12A>G	ENSP00000484546.1:n.887-12A>G
NM_000391.3:c.887-12A>G	NP_000382.3:n.887-12A>G
NM_000391.4:c.887-12A>G MANE Select	NP_000382.3:n.887-12A>G