Canonical Allele Identifier: CA379476724

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1504369
• ClinVar RCV Id: RCV002028747 ; RCV003120801
• dbSNP Id: rs1060502179
• MyVariant Identifiers: chr11:g.6640054A>G (hg19) ; chr11:g.6618823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618823A>G , CM000673.2:g.6618823A>G	GRCh38
NC_000011.9:g.6640054A>G , CM000673.1:g.6640054A>G	GRCh37
NC_000011.8:g.6596630A>G	NCBI36
NG_008653.1:g.5639T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.68T>C	ENSP00000507321.1:p.Leu23Pro
ENST00000299427.12:c.182T>C MANE Select	ENSP00000299427.6:p.Leu61Pro
ENST00000428886.7:n.270T>C
ENST00000524788.2:n.195T>C
ENST00000524903.2:n.311T>C
ENST00000528571.6:c.89+373T>C	ENSP00000434647.1:n.89+373T>C
ENST00000528657.2:c.*369T>C	ENSP00000435001.1:n.*369T>C
ENST00000530040.2:n.211T>C
ENST00000531754.2:c.182T>C	ENSP00000493706.1:p.Leu61Pro
ENST00000533371.6:c.-548T>C	ENSP00000437066.1:n.-548T>C
ENST00000534644.6:n.183T>C
ENST00000642892.1:c.-495T>C	ENSP00000494165.1:n.-495T>C
ENST00000643439.1:c.89+373T>C	ENSP00000495849.1:n.89+373T>C
ENST00000643479.1:n.211T>C
ENST00000643516.1:c.69T>C
ENST00000644151.1:n.475T>C
ENST00000644218.1:c.182T>C	ENSP00000493574.1:p.Leu61Pro
ENST00000644683.1:c.182T>C	ENSP00000494085.1:p.Leu61Pro
ENST00000644810.1:c.182T>C	ENSP00000495895.1:p.Leu61Pro
ENST00000644831.1:n.211T>C
ENST00000644933.1:c.-548T>C	ENSP00000496133.1:n.-548T>C
ENST00000645020.1:n.211T>C
ENST00000645285.1:c.-501+373T>C	ENSP00000495058.1:n.-501+373T>C
ENST00000645331.1:n.204T>C
ENST00000645620.1:c.-490T>C	ENSP00000493657.1:n.-490T>C
ENST00000646777.1:n.211T>C
ENST00000647152.1:c.-501+373T>C	ENSP00000495893.1:n.-501+373T>C
ENST00000647209.1:c.*51T>C	ENSP00000495558.1:n.*51T>C
ENST00000647346.1:n.203T>C
ENST00000299427.10:c.182T>C	ENSP00000299427.6:p.Leu61Pro
ENST00000428886.6:n.204T>C
ENST00000436873.6:c.182T>C	ENSP00000398136.2:p.Leu61Pro
ENST00000524903.1:n.279T>C
ENST00000528571.5:c.89+373T>C	ENSP00000434647.1:n.89+373T>C
ENST00000528657.1:c.*369T>C	ENSP00000435001.1:n.*369T>C
ENST00000528917.1:n.483T>C
ENST00000530040.1:n.294T>C
ENST00000531754.1:n.230T>C
ENST00000533371.5:c.-548T>C	ENSP00000437066.1:n.-548T>C
ENST00000534644.5:n.214+373T>C
ENST00000611494.4:c.182T>C	ENSP00000484546.1:p.Leu61Pro
NM_000391.3:c.182T>C	NP_000382.3:p.Leu61Pro
NM_000391.4:c.182T>C MANE Select	NP_000382.3:p.Leu61Pro