Canonical Allele Identifier: CA379472686

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636487C>A (hg19) ; chr11:g.6615256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615256C>A , CM000673.2:g.6615256C>A	GRCh38
NC_000011.9:g.6636487C>A , CM000673.1:g.6636487C>A	GRCh37
NC_000011.8:g.6593063C>A	NCBI36
NG_008653.1:g.9206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1226G>T	ENSP00000507321.1:p.Arg409Leu
ENST00000299427.12:c.1340G>T MANE Select	ENSP00000299427.6:p.Arg447Leu
ENST00000524611.2:n.200G>T
ENST00000524924.2:n.460G>T
ENST00000533371.6:c.611G>T	ENSP00000437066.1:p.Arg204Leu
ENST00000642892.1:c.611G>T	ENSP00000494165.1:p.Arg204Leu
ENST00000643342.1:c.413G>T
ENST00000643439.1:c.*1080G>T	ENSP00000495849.1:n.*1080G>T
ENST00000643479.1:n.1526G>T
ENST00000643516.1:c.849G>T
ENST00000644218.1:c.1151G>T	ENSP00000493574.1:p.Arg384Leu
ENST00000644683.1:c.*793G>T	ENSP00000494085.1:n.*793G>T
ENST00000644810.1:c.1061G>T	ENSP00000495895.1:p.Arg354Leu
ENST00000644831.1:n.1516G>T
ENST00000644933.1:c.*206G>T	ENSP00000496133.1:n.*206G>T
ENST00000645285.1:c.*206G>T	ENSP00000495058.1:n.*206G>T
ENST00000645331.1:n.2545G>T
ENST00000645620.1:c.611G>T	ENSP00000493657.1:p.Arg204Leu
ENST00000646691.1:n.1227G>T
ENST00000646777.1:n.1673G>T
ENST00000647016.1:n.1820G>T
ENST00000647152.1:c.611G>T	ENSP00000495893.1:p.Arg204Leu
ENST00000647209.1:c.*1209G>T	ENSP00000495558.1:n.*1209G>T
ENST00000647346.1:n.2360G>T
ENST00000299427.10:c.1340G>T	ENSP00000299427.6:p.Arg447Leu
ENST00000524611.1:n.218G>T
ENST00000532191.1:n.393G>T
ENST00000533371.5:c.611G>T	ENSP00000437066.1:p.Arg204Leu
ENST00000611494.4:c.1340G>T	ENSP00000484546.1:p.Arg447Leu
NM_000391.3:c.1340G>T	NP_000382.3:p.Arg447Leu
NM_000391.4:c.1340G>T MANE Select	NP_000382.3:p.Arg447Leu