Canonical Allele Identifier: CA472771239

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636549T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615318T>A , CM000673.2:g.6615318T>A	GRCh38
NC_000011.9:g.6636549T>A , CM000673.1:g.6636549T>A	GRCh37
NC_000011.8:g.6593125T>A	NCBI36
NG_008653.1:g.9144A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1164A>T	ENSP00000507321.1:p.Val388=
ENST00000299427.12:c.1278A>T MANE Select	ENSP00000299427.6:p.Val426=
ENST00000524611.2:n.138A>T
ENST00000524924.2:n.398A>T
ENST00000533371.6:c.549A>T	ENSP00000437066.1:p.Val183=
ENST00000642892.1:c.549A>T	ENSP00000494165.1:p.Val183=
ENST00000643342.1:c.351A>T
ENST00000643439.1:c.*1018A>T	ENSP00000495849.1:n.*1018A>T
ENST00000643479.1:n.1464A>T
ENST00000643516.1:c.787A>T
ENST00000644218.1:c.1089A>T	ENSP00000493574.1:p.Val363=
ENST00000644683.1:c.*731A>T	ENSP00000494085.1:n.*731A>T
ENST00000644810.1:c.999A>T	ENSP00000495895.1:p.Val333=
ENST00000644831.1:n.1454A>T
ENST00000644933.1:c.*144A>T	ENSP00000496133.1:n.*144A>T
ENST00000645285.1:c.*144A>T	ENSP00000495058.1:n.*144A>T
ENST00000645331.1:n.2483A>T
ENST00000645620.1:c.549A>T	ENSP00000493657.1:p.Val183=
ENST00000646691.1:n.1165A>T
ENST00000646777.1:n.1611A>T
ENST00000647016.1:n.1758A>T
ENST00000647152.1:c.549A>T	ENSP00000495893.1:p.Val183=
ENST00000647209.1:c.*1147A>T	ENSP00000495558.1:n.*1147A>T
ENST00000647346.1:n.2298A>T
ENST00000299427.10:c.1278A>T	ENSP00000299427.6:p.Val426=
ENST00000524611.1:n.156A>T
ENST00000524924.1:n.233A>T
ENST00000532191.1:n.331A>T
ENST00000533371.5:c.549A>T	ENSP00000437066.1:p.Val183=
ENST00000611494.4:c.1278A>T	ENSP00000484546.1:p.Val426=
NM_000391.3:c.1278A>T	NP_000382.3:p.Val426=
NM_000391.4:c.1278A>T MANE Select	NP_000382.3:p.Val426=