Canonical Allele Identifier: CA472771946

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2770254
• ClinVar RCV Id: RCV003580586
• MyVariant Identifiers: chr11:g.6636751A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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