Canonical Allele Identifier: CA379473919

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616076T>C , CM000673.2:g.6616076T>C	GRCh38
NC_000011.9:g.6637307T>C , CM000673.1:g.6637307T>C	GRCh37
NC_000011.8:g.6593883T>C	NCBI36
NG_008653.1:g.8386A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1076-2A>G MANE Select	NP_000382.3:n.1076-2A>G
ENST00000299427.12:c.1076-2A>G MANE Select	ENSP00000299427.6:n.1076-2A>G
NM_000391.3:c.1076-2A>G	NP_000382.3:n.1076-2A>G
ENST00000299427.10:c.1076-2A>G	ENSP00000299427.6:n.1076-2A>G
ENST00000436873.7:c.313-2A>G
ENST00000524924.1:n.29A>G
ENST00000524924.2:n.194A>G
ENST00000533371.5:c.347-2A>G	ENSP00000437066.1:n.347-2A>G
ENST00000533371.6:c.347-2A>G	ENSP00000437066.1:n.347-2A>G
ENST00000611494.4:c.1076-2A>G	ENSP00000484546.1:n.1076-2A>G
ENST00000642892.1:c.347-2A>G	ENSP00000494165.1:n.347-2A>G
ENST00000643342.1:c.166-2A>G
ENST00000643439.1:c.*816-2A>G	ENSP00000495849.1:n.*816-2A>G
ENST00000643479.1:n.1262-2A>G
ENST00000643516.1:c.585-2A>G
ENST00000644218.1:c.887-2A>G	ENSP00000493574.1:n.887-2A>G
ENST00000644683.1:c.*529-2A>G	ENSP00000494085.1:n.*529-2A>G
ENST00000644810.1:c.797-2A>G	ENSP00000495895.1:n.797-2A>G
ENST00000644831.1:n.1252-2A>G
ENST00000644933.1:c.347-2A>G	ENSP00000496133.1:n.347-2A>G
ENST00000645285.1:c.158-2A>G	ENSP00000495058.1:n.158-2A>G
ENST00000645331.1:n.1837A>G
ENST00000645620.1:c.347-2A>G	ENSP00000493657.1:n.347-2A>G
ENST00000646691.1:n.407A>G
ENST00000646777.1:n.1409-2A>G
ENST00000647016.1:n.1556-2A>G
ENST00000647152.1:c.347-2A>G	ENSP00000495893.1:n.347-2A>G
ENST00000647209.1:c.*945-2A>G	ENSP00000495558.1:n.*945-2A>G
ENST00000647346.1:n.2096-2A>G
ENST00000682424.1:c.962-2A>G	ENSP00000507321.1:n.962-2A>G