Canonical Allele Identifier: CA472771942

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636751A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615520A>C , CM000673.2:g.6615520A>C	GRCh38
NC_000011.9:g.6636751A>C , CM000673.1:g.6636751A>C	GRCh37
NC_000011.8:g.6593327A>C	NCBI36
NG_008653.1:g.8942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1074T>G	ENSP00000507321.1:p.Pro358=
ENST00000299427.12:c.1188T>G MANE Select	ENSP00000299427.6:p.Pro396=
ENST00000436873.7:c.425T>G
ENST00000524924.2:n.308T>G
ENST00000533371.6:c.459T>G	ENSP00000437066.1:p.Pro153=
ENST00000642892.1:c.459T>G	ENSP00000494165.1:p.Pro153=
ENST00000643342.1:c.261T>G
ENST00000643439.1:c.*928T>G	ENSP00000495849.1:n.*928T>G
ENST00000643479.1:n.1374T>G
ENST00000643516.1:c.697T>G
ENST00000644218.1:c.999T>G	ENSP00000493574.1:p.Pro333=
ENST00000644683.1:c.*641T>G	ENSP00000494085.1:n.*641T>G
ENST00000644810.1:c.909T>G	ENSP00000495895.1:p.Pro303=
ENST00000644831.1:n.1364T>G
ENST00000644933.1:c.*54T>G	ENSP00000496133.1:n.*54T>G
ENST00000645285.1:c.*54T>G	ENSP00000495058.1:n.*54T>G
ENST00000645331.1:n.2393T>G
ENST00000645620.1:c.459T>G	ENSP00000493657.1:p.Pro153=
ENST00000646691.1:n.963T>G
ENST00000646777.1:n.1521T>G
ENST00000647016.1:n.1668T>G
ENST00000647152.1:c.459T>G	ENSP00000495893.1:p.Pro153=
ENST00000647209.1:c.*1057T>G	ENSP00000495558.1:n.*1057T>G
ENST00000647346.1:n.2208T>G
ENST00000299427.10:c.1188T>G	ENSP00000299427.6:p.Pro396=
ENST00000524924.1:n.143T>G
ENST00000532191.1:n.241T>G
ENST00000533371.5:c.459T>G	ENSP00000437066.1:p.Pro153=
ENST00000611494.4:c.1188T>G	ENSP00000484546.1:p.Pro396=
NM_000391.3:c.1188T>G	NP_000382.3:p.Pro396=
NM_000391.4:c.1188T>G MANE Select	NP_000382.3:p.Pro396=