Canonical Allele Identifier: CA379475641

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638375A>G (hg19) ; chr11:g.6617144A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617144A>G , CM000673.2:g.6617144A>G	GRCh38
NC_000011.9:g.6638375A>G , CM000673.1:g.6638375A>G	GRCh37
NC_000011.8:g.6594951A>G	NCBI36
NG_008653.1:g.7318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.404T>C	ENSP00000507321.1:p.Leu135Pro
ENST00000299427.12:c.518T>C MANE Select	ENSP00000299427.6:p.Leu173Pro
ENST00000428886.7:n.753T>C
ENST00000436873.7:c.312+157T>C
ENST00000524788.2:n.1677T>C
ENST00000524903.2:n.1793T>C
ENST00000528807.2:n.174T>C
ENST00000530040.2:n.479+215T>C
ENST00000533371.6:c.-212T>C	ENSP00000437066.1:n.-212T>C
ENST00000534644.6:n.466T>C
ENST00000642892.1:c.-212T>C	ENSP00000494165.1:n.-212T>C
ENST00000643439.1:c.*258T>C	ENSP00000495849.1:n.*258T>C
ENST00000643479.1:n.547T>C
ENST00000643516.1:c.395+157T>C
ENST00000644151.1:n.1957T>C
ENST00000644218.1:c.518T>C	ENSP00000493574.1:p.Leu173Pro
ENST00000644683.1:c.460T>C	ENSP00000494085.1:p.Cys154Arg
ENST00000644810.1:c.239T>C	ENSP00000495895.1:p.Leu80Pro
ENST00000644831.1:n.694T>C
ENST00000644933.1:c.-212T>C	ENSP00000496133.1:n.-212T>C
ENST00000645020.1:n.1693T>C
ENST00000645285.1:c.-212T>C	ENSP00000495058.1:n.-212T>C
ENST00000645331.1:n.884T>C
ENST00000645620.1:c.-212T>C	ENSP00000493657.1:n.-212T>C
ENST00000646777.1:n.694T>C
ENST00000647016.1:n.998T>C
ENST00000647152.1:c.-212T>C	ENSP00000495893.1:n.-212T>C
ENST00000647209.1:c.*387T>C	ENSP00000495558.1:n.*387T>C
ENST00000647346.1:n.1538T>C
ENST00000299427.10:c.518T>C	ENSP00000299427.6:p.Leu173Pro
ENST00000428886.6:n.687T>C
ENST00000436873.6:c.450+215T>C	ENSP00000398136.2:n.450+215T>C
ENST00000524788.1:n.218T>C
ENST00000528571.5:c.*258T>C	ENSP00000434647.1:n.*258T>C
ENST00000528807.1:n.68T>C
ENST00000533371.5:c.-212T>C	ENSP00000437066.1:n.-212T>C
ENST00000534644.5:n.503T>C
ENST00000611494.4:c.518T>C	ENSP00000484546.1:p.Leu173Pro
NM_000391.3:c.518T>C	NP_000382.3:p.Leu173Pro
NM_000391.4:c.518T>C MANE Select	NP_000382.3:p.Leu173Pro