Canonical Allele Identifier: CA379475593

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2437217
• ClinVar RCV Id: RCV003141137
• dbSNP Id: rs1855598902
• MyVariant Identifiers: chr11:g.6638348A>G (hg19) ; chr11:g.6617117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617117A>G , CM000673.2:g.6617117A>G	GRCh38
NC_000011.9:g.6638348A>G , CM000673.1:g.6638348A>G	GRCh37
NC_000011.8:g.6594924A>G	NCBI36
NG_008653.1:g.7345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.431T>C	ENSP00000507321.1:p.Leu144Pro
ENST00000299427.12:c.545T>C MANE Select	ENSP00000299427.6:p.Leu182Pro
ENST00000428886.7:n.780T>C
ENST00000436873.7:c.312+184T>C
ENST00000524788.2:n.1704T>C
ENST00000524903.2:n.1820T>C
ENST00000528807.2:n.201T>C
ENST00000530040.2:n.479+242T>C
ENST00000533371.6:c.-185T>C	ENSP00000437066.1:n.-185T>C
ENST00000534644.6:n.493T>C
ENST00000642892.1:c.-185T>C	ENSP00000494165.1:n.-185T>C
ENST00000643439.1:c.*285T>C	ENSP00000495849.1:n.*285T>C
ENST00000643479.1:n.574T>C
ENST00000643516.1:c.395+184T>C
ENST00000644151.1:n.1984T>C
ENST00000644218.1:c.545T>C	ENSP00000493574.1:p.Leu182Pro
ENST00000644683.1:c.487T>C	ENSP00000494085.1:p.Ter163Arg
ENST00000644810.1:c.266T>C	ENSP00000495895.1:p.Leu89Pro
ENST00000644831.1:n.721T>C
ENST00000644933.1:c.-185T>C	ENSP00000496133.1:n.-185T>C
ENST00000645020.1:n.1720T>C
ENST00000645285.1:c.-185T>C	ENSP00000495058.1:n.-185T>C
ENST00000645331.1:n.911T>C
ENST00000645620.1:c.-185T>C	ENSP00000493657.1:n.-185T>C
ENST00000646777.1:n.721T>C
ENST00000647016.1:n.1025T>C
ENST00000647152.1:c.-185T>C	ENSP00000495893.1:n.-185T>C
ENST00000647209.1:c.*414T>C	ENSP00000495558.1:n.*414T>C
ENST00000647346.1:n.1565T>C
ENST00000299427.10:c.545T>C	ENSP00000299427.6:p.Leu182Pro
ENST00000428886.6:n.714T>C
ENST00000436873.6:c.450+242T>C	ENSP00000398136.2:n.450+242T>C
ENST00000524788.1:n.245T>C
ENST00000528571.5:c.*285T>C	ENSP00000434647.1:n.*285T>C
ENST00000528807.1:n.95T>C
ENST00000533371.5:c.-185T>C	ENSP00000437066.1:n.-185T>C
ENST00000534644.5:n.530T>C
ENST00000611494.4:c.545T>C	ENSP00000484546.1:p.Leu182Pro
NM_000391.3:c.545T>C	NP_000382.3:p.Leu182Pro
NM_000391.4:c.545T>C MANE Select	NP_000382.3:p.Leu182Pro