Canonical Allele Identifier: CA379473090

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636761A>C (hg19) ; chr11:g.6615530A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615530A>C , CM000673.2:g.6615530A>C	GRCh38
NC_000011.9:g.6636761A>C , CM000673.1:g.6636761A>C	GRCh37
NC_000011.8:g.6593337A>C	NCBI36
NG_008653.1:g.8932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1064T>G	ENSP00000507321.1:p.Phe355Cys
ENST00000299427.12:c.1178T>G MANE Select	ENSP00000299427.6:p.Phe393Cys
ENST00000436873.7:c.415T>G
ENST00000524924.2:n.298T>G
ENST00000533371.6:c.449T>G	ENSP00000437066.1:p.Phe150Cys
ENST00000642892.1:c.449T>G	ENSP00000494165.1:p.Phe150Cys
ENST00000643342.1:c.251T>G
ENST00000643439.1:c.*918T>G	ENSP00000495849.1:n.*918T>G
ENST00000643479.1:n.1364T>G
ENST00000643516.1:c.687T>G
ENST00000644218.1:c.989T>G	ENSP00000493574.1:p.Phe330Cys
ENST00000644683.1:c.*631T>G	ENSP00000494085.1:n.*631T>G
ENST00000644810.1:c.899T>G	ENSP00000495895.1:p.Phe300Cys
ENST00000644831.1:n.1354T>G
ENST00000644933.1:c.*44T>G	ENSP00000496133.1:n.*44T>G
ENST00000645285.1:c.*44T>G	ENSP00000495058.1:n.*44T>G
ENST00000645331.1:n.2383T>G
ENST00000645620.1:c.449T>G	ENSP00000493657.1:p.Phe150Cys
ENST00000646691.1:n.953T>G
ENST00000646777.1:n.1511T>G
ENST00000647016.1:n.1658T>G
ENST00000647152.1:c.449T>G	ENSP00000495893.1:p.Phe150Cys
ENST00000647209.1:c.*1047T>G	ENSP00000495558.1:n.*1047T>G
ENST00000647346.1:n.2198T>G
ENST00000299427.10:c.1178T>G	ENSP00000299427.6:p.Phe393Cys
ENST00000524924.1:n.133T>G
ENST00000532191.1:n.231T>G
ENST00000533371.5:c.449T>G	ENSP00000437066.1:p.Phe150Cys
ENST00000611494.4:c.1178T>G	ENSP00000484546.1:p.Phe393Cys
NM_000391.3:c.1178T>G	NP_000382.3:p.Phe393Cys
NM_000391.4:c.1178T>G MANE Select	NP_000382.3:p.Phe393Cys