Canonical Allele Identifier: CA379474167

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637612T>A (hg19) ; chr11:g.6616381T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616381T>A , CM000673.2:g.6616381T>A	GRCh38
NC_000011.9:g.6637612T>A , CM000673.1:g.6637612T>A	GRCh37
NC_000011.8:g.6594188T>A	NCBI36
NG_008653.1:g.8081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.895A>T	ENSP00000507321.1:p.Ile299Phe
ENST00000299427.12:c.1009A>T MANE Select	ENSP00000299427.6:p.Ile337Phe
ENST00000436873.7:c.313-307A>T
ENST00000533371.6:c.280A>T	ENSP00000437066.1:p.Ile94Phe
ENST00000642892.1:c.280A>T	ENSP00000494165.1:p.Ile94Phe
ENST00000643342.1:c.99A>T
ENST00000643439.1:c.*749A>T	ENSP00000495849.1:n.*749A>T
ENST00000643479.1:n.1195A>T
ENST00000643516.1:c.518A>T
ENST00000644218.1:c.886+280A>T	ENSP00000493574.1:n.886+280A>T
ENST00000644683.1:c.*462A>T	ENSP00000494085.1:n.*462A>T
ENST00000644810.1:c.730A>T	ENSP00000495895.1:p.Ile244Phe
ENST00000644831.1:n.1185A>T
ENST00000644933.1:c.280A>T	ENSP00000496133.1:p.Ile94Phe
ENST00000645285.1:c.157+280A>T	ENSP00000495058.1:n.157+280A>T
ENST00000645331.1:n.1532A>T
ENST00000645620.1:c.280A>T	ENSP00000493657.1:p.Ile94Phe
ENST00000646691.1:n.102A>T
ENST00000646777.1:n.1342A>T
ENST00000647016.1:n.1489A>T
ENST00000647152.1:c.280A>T	ENSP00000495893.1:p.Ile94Phe
ENST00000647209.1:c.*878A>T	ENSP00000495558.1:n.*878A>T
ENST00000647346.1:n.2029A>T
ENST00000299427.10:c.1009A>T	ENSP00000299427.6:p.Ile337Phe
ENST00000533371.5:c.280A>T	ENSP00000437066.1:p.Ile94Phe
ENST00000611494.4:c.1009A>T	ENSP00000484546.1:p.Ile337Phe
NM_000391.3:c.1009A>T	NP_000382.3:p.Ile337Phe
NM_000391.4:c.1009A>T MANE Select	NP_000382.3:p.Ile337Phe