Canonical Allele Identifier: CA379474070

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637566A>T (hg19) ; chr11:g.6616335A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616335A>T , CM000673.2:g.6616335A>T	GRCh38
NC_000011.9:g.6637566A>T , CM000673.1:g.6637566A>T	GRCh37
NC_000011.8:g.6594142A>T	NCBI36
NG_008653.1:g.8127T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.941T>A	ENSP00000507321.1:p.Leu314His
ENST00000299427.12:c.1055T>A MANE Select	ENSP00000299427.6:p.Leu352His
ENST00000436873.7:c.313-261T>A
ENST00000533371.6:c.326T>A	ENSP00000437066.1:p.Leu109His
ENST00000642892.1:c.326T>A	ENSP00000494165.1:p.Leu109His
ENST00000643342.1:c.145T>A
ENST00000643439.1:c.*795T>A	ENSP00000495849.1:n.*795T>A
ENST00000643479.1:n.1241T>A
ENST00000643516.1:c.564T>A
ENST00000644218.1:c.887-261T>A	ENSP00000493574.1:n.887-261T>A
ENST00000644683.1:c.*508T>A	ENSP00000494085.1:n.*508T>A
ENST00000644810.1:c.776T>A	ENSP00000495895.1:p.Leu259His
ENST00000644831.1:n.1231T>A
ENST00000644933.1:c.326T>A	ENSP00000496133.1:p.Leu109His
ENST00000645285.1:c.158-261T>A	ENSP00000495058.1:n.158-261T>A
ENST00000645331.1:n.1578T>A
ENST00000645620.1:c.326T>A	ENSP00000493657.1:p.Leu109His
ENST00000646691.1:n.148T>A
ENST00000646777.1:n.1388T>A
ENST00000647016.1:n.1535T>A
ENST00000647152.1:c.326T>A	ENSP00000495893.1:p.Leu109His
ENST00000647209.1:c.*924T>A	ENSP00000495558.1:n.*924T>A
ENST00000647346.1:n.2075T>A
ENST00000299427.10:c.1055T>A	ENSP00000299427.6:p.Leu352His
ENST00000533371.5:c.326T>A	ENSP00000437066.1:p.Leu109His
ENST00000611494.4:c.1055T>A	ENSP00000484546.1:p.Leu352His
NM_000391.3:c.1055T>A	NP_000382.3:p.Leu352His
NM_000391.4:c.1055T>A MANE Select	NP_000382.3:p.Leu352His