Canonical Allele Identifier: CA379475595

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638349G>C (hg19) ; chr11:g.6617118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617118G>C , CM000673.2:g.6617118G>C	GRCh38
NC_000011.9:g.6638349G>C , CM000673.1:g.6638349G>C	GRCh37
NC_000011.8:g.6594925G>C	NCBI36
NG_008653.1:g.7344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.430C>G	ENSP00000507321.1:p.Leu144Val
ENST00000299427.12:c.544C>G MANE Select	ENSP00000299427.6:p.Leu182Val
ENST00000428886.7:n.779C>G
ENST00000436873.7:c.312+183C>G
ENST00000524788.2:n.1703C>G
ENST00000524903.2:n.1819C>G
ENST00000528807.2:n.200C>G
ENST00000530040.2:n.479+241C>G
ENST00000533371.6:c.-186C>G	ENSP00000437066.1:n.-186C>G
ENST00000534644.6:n.492C>G
ENST00000642892.1:c.-186C>G	ENSP00000494165.1:n.-186C>G
ENST00000643439.1:c.*284C>G	ENSP00000495849.1:n.*284C>G
ENST00000643479.1:n.573C>G
ENST00000643516.1:c.395+183C>G
ENST00000644151.1:n.1983C>G
ENST00000644218.1:c.544C>G	ENSP00000493574.1:p.Leu182Val
ENST00000644683.1:c.486C>G	ENSP00000494085.1:p.Pro162=
ENST00000644810.1:c.265C>G	ENSP00000495895.1:p.Leu89Val
ENST00000644831.1:n.720C>G
ENST00000644933.1:c.-186C>G	ENSP00000496133.1:n.-186C>G
ENST00000645020.1:n.1719C>G
ENST00000645285.1:c.-186C>G	ENSP00000495058.1:n.-186C>G
ENST00000645331.1:n.910C>G
ENST00000645620.1:c.-186C>G	ENSP00000493657.1:n.-186C>G
ENST00000646777.1:n.720C>G
ENST00000647016.1:n.1024C>G
ENST00000647152.1:c.-186C>G	ENSP00000495893.1:n.-186C>G
ENST00000647209.1:c.*413C>G	ENSP00000495558.1:n.*413C>G
ENST00000647346.1:n.1564C>G
ENST00000299427.10:c.544C>G	ENSP00000299427.6:p.Leu182Val
ENST00000428886.6:n.713C>G
ENST00000436873.6:c.450+241C>G	ENSP00000398136.2:n.450+241C>G
ENST00000524788.1:n.244C>G
ENST00000528571.5:c.*284C>G	ENSP00000434647.1:n.*284C>G
ENST00000528807.1:n.94C>G
ENST00000533371.5:c.-186C>G	ENSP00000437066.1:n.-186C>G
ENST00000534644.5:n.529C>G
ENST00000611494.4:c.544C>G	ENSP00000484546.1:p.Leu182Val
NM_000391.3:c.544C>G	NP_000382.3:p.Leu182Val
NM_000391.4:c.544C>G MANE Select	NP_000382.3:p.Leu182Val