Canonical Allele Identifier: CA379472956

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636720T>G (hg19) ; chr11:g.6615489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615489T>G , CM000673.2:g.6615489T>G	GRCh38
NC_000011.9:g.6636720T>G , CM000673.1:g.6636720T>G	GRCh37
NC_000011.8:g.6593296T>G	NCBI36
NG_008653.1:g.8973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1105A>C	ENSP00000507321.1:p.Ile369Leu
ENST00000299427.12:c.1219A>C MANE Select	ENSP00000299427.6:p.Ile407Leu
ENST00000436873.7:c.456A>C
ENST00000524924.2:n.339A>C
ENST00000533371.6:c.490A>C	ENSP00000437066.1:p.Ile164Leu
ENST00000642892.1:c.490A>C	ENSP00000494165.1:p.Ile164Leu
ENST00000643342.1:c.292A>C
ENST00000643439.1:c.*959A>C	ENSP00000495849.1:n.*959A>C
ENST00000643479.1:n.1405A>C
ENST00000643516.1:c.728A>C
ENST00000644218.1:c.1030A>C	ENSP00000493574.1:p.Ile344Leu
ENST00000644683.1:c.*672A>C	ENSP00000494085.1:n.*672A>C
ENST00000644810.1:c.940A>C	ENSP00000495895.1:p.Ile314Leu
ENST00000644831.1:n.1395A>C
ENST00000644933.1:c.*85A>C	ENSP00000496133.1:n.*85A>C
ENST00000645285.1:c.*85A>C	ENSP00000495058.1:n.*85A>C
ENST00000645331.1:n.2424A>C
ENST00000645620.1:c.490A>C	ENSP00000493657.1:p.Ile164Leu
ENST00000646691.1:n.994A>C
ENST00000646777.1:n.1552A>C
ENST00000647016.1:n.1699A>C
ENST00000647152.1:c.490A>C	ENSP00000495893.1:p.Ile164Leu
ENST00000647209.1:c.*1088A>C	ENSP00000495558.1:n.*1088A>C
ENST00000647346.1:n.2239A>C
ENST00000299427.10:c.1219A>C	ENSP00000299427.6:p.Ile407Leu
ENST00000524924.1:n.174A>C
ENST00000532191.1:n.272A>C
ENST00000533371.5:c.490A>C	ENSP00000437066.1:p.Ile164Leu
ENST00000611494.4:c.1219A>C	ENSP00000484546.1:p.Ile407Leu
NM_000391.3:c.1219A>C	NP_000382.3:p.Ile407Leu
NM_000391.4:c.1219A>C MANE Select	NP_000382.3:p.Ile407Leu