Canonical Allele Identifier: CA472922933

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2957459
• ClinVar RCV Id: RCV003819146
• MyVariant Identifiers: chr11:g.6638284A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617053A>G , CM000673.2:g.6617053A>G	GRCh38
NC_000011.9:g.6638284A>G , CM000673.1:g.6638284A>G	GRCh37
NC_000011.8:g.6594860A>G	NCBI36
NG_008653.1:g.7409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.495T>C	ENSP00000507321.1:p.Ser165=
ENST00000299427.12:c.609T>C MANE Select	ENSP00000299427.6:p.Ser203=
ENST00000436873.7:c.312+248T>C
ENST00000524788.2:n.1768T>C
ENST00000524903.2:n.1884T>C
ENST00000528807.2:n.265T>C
ENST00000530040.2:n.479+306T>C
ENST00000533371.6:c.-121T>C	ENSP00000437066.1:n.-121T>C
ENST00000534644.6:n.557T>C
ENST00000642892.1:c.-121T>C	ENSP00000494165.1:n.-121T>C
ENST00000643439.1:c.*349T>C	ENSP00000495849.1:n.*349T>C
ENST00000643479.1:n.638T>C
ENST00000643516.1:c.395+248T>C
ENST00000644151.1:n.2048T>C
ENST00000644218.1:c.609T>C	ENSP00000493574.1:p.Ser203=
ENST00000644683.1:c.*62T>C	ENSP00000494085.1:n.*62T>C
ENST00000644810.1:c.330T>C	ENSP00000495895.1:p.Ser110=
ENST00000644831.1:n.785T>C
ENST00000644933.1:c.-121T>C	ENSP00000496133.1:n.-121T>C
ENST00000645020.1:n.1784T>C
ENST00000645285.1:c.-121T>C	ENSP00000495058.1:n.-121T>C
ENST00000645331.1:n.975T>C
ENST00000645620.1:c.-121T>C	ENSP00000493657.1:n.-121T>C
ENST00000646777.1:n.785T>C
ENST00000647016.1:n.1089T>C
ENST00000647152.1:c.-121T>C	ENSP00000495893.1:n.-121T>C
ENST00000647209.1:c.*478T>C	ENSP00000495558.1:n.*478T>C
ENST00000647346.1:n.1629T>C
ENST00000299427.10:c.609T>C	ENSP00000299427.6:p.Ser203=
ENST00000428886.6:n.778T>C
ENST00000436873.6:c.450+306T>C	ENSP00000398136.2:n.450+306T>C
ENST00000524788.1:n.309T>C
ENST00000528571.5:c.*349T>C	ENSP00000434647.1:n.*349T>C
ENST00000528807.1:n.159T>C
ENST00000533371.5:c.-121T>C	ENSP00000437066.1:n.-121T>C
ENST00000534644.5:n.594T>C
ENST00000611494.4:c.609T>C	ENSP00000484546.1:p.Ser203=
NM_000391.3:c.609T>C	NP_000382.3:p.Ser203=
NM_000391.4:c.609T>C MANE Select	NP_000382.3:p.Ser203=