Canonical Allele Identifier: CA472772147

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636778T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615547T>G , CM000673.2:g.6615547T>G	GRCh38
NC_000011.9:g.6636778T>G , CM000673.1:g.6636778T>G	GRCh37
NC_000011.8:g.6593354T>G	NCBI36
NG_008653.1:g.8915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1047A>C	ENSP00000507321.1:p.Thr349=
ENST00000299427.12:c.1161A>C MANE Select	ENSP00000299427.6:p.Thr387=
ENST00000436873.7:c.398A>C
ENST00000524924.2:n.281A>C
ENST00000533371.6:c.432A>C	ENSP00000437066.1:p.Thr144=
ENST00000642892.1:c.432A>C	ENSP00000494165.1:p.Thr144=
ENST00000643342.1:c.236-2A>C
ENST00000643439.1:c.*901A>C	ENSP00000495849.1:n.*901A>C
ENST00000643479.1:n.1347A>C
ENST00000643516.1:c.670A>C
ENST00000644218.1:c.972A>C	ENSP00000493574.1:p.Thr324=
ENST00000644683.1:c.*614A>C	ENSP00000494085.1:n.*614A>C
ENST00000644810.1:c.882A>C	ENSP00000495895.1:p.Thr294=
ENST00000644831.1:n.1337A>C
ENST00000644933.1:c.*27A>C	ENSP00000496133.1:n.*27A>C
ENST00000645285.1:c.*27A>C	ENSP00000495058.1:n.*27A>C
ENST00000645331.1:n.2366A>C
ENST00000645620.1:c.432A>C	ENSP00000493657.1:p.Thr144=
ENST00000646691.1:n.936A>C
ENST00000646777.1:n.1494A>C
ENST00000647016.1:n.1641A>C
ENST00000647152.1:c.432A>C	ENSP00000495893.1:p.Thr144=
ENST00000647209.1:c.*1030A>C	ENSP00000495558.1:n.*1030A>C
ENST00000647346.1:n.2181A>C
ENST00000299427.10:c.1161A>C	ENSP00000299427.6:p.Thr387=
ENST00000524924.1:n.116A>C
ENST00000532191.1:n.214A>C
ENST00000533371.5:c.432A>C	ENSP00000437066.1:p.Thr144=
ENST00000611494.4:c.1161A>C	ENSP00000484546.1:p.Thr387=
NM_000391.3:c.1161A>C	NP_000382.3:p.Thr387=
NM_000391.4:c.1161A>C MANE Select	NP_000382.3:p.Thr387=