Canonical Allele Identifier: CA379472678

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1389145
• ClinVar RCV Id: RCV001887014
• dbSNP Id: rs1161254142
• MyVariant Identifiers: chr11:g.6636482A>T (hg19) ; chr11:g.6615251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615251A>T , CM000673.2:g.6615251A>T	GRCh38
NC_000011.9:g.6636482A>T , CM000673.1:g.6636482A>T	GRCh37
NC_000011.8:g.6593058A>T	NCBI36
NG_008653.1:g.9211T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1231T>A	ENSP00000507321.1:p.Tyr411Asn
ENST00000299427.12:c.1345T>A MANE Select	ENSP00000299427.6:p.Tyr449Asn
ENST00000524611.2:n.205T>A
ENST00000524924.2:n.465T>A
ENST00000533371.6:c.616T>A	ENSP00000437066.1:p.Tyr206Asn
ENST00000642892.1:c.616T>A	ENSP00000494165.1:p.Tyr206Asn
ENST00000643342.1:c.418T>A
ENST00000643439.1:c.*1085T>A	ENSP00000495849.1:n.*1085T>A
ENST00000643479.1:n.1531T>A
ENST00000643516.1:c.854T>A
ENST00000644218.1:c.1156T>A	ENSP00000493574.1:p.Tyr386Asn
ENST00000644683.1:c.*798T>A	ENSP00000494085.1:n.*798T>A
ENST00000644810.1:c.1066T>A	ENSP00000495895.1:p.Tyr356Asn
ENST00000644831.1:n.1521T>A
ENST00000644933.1:c.*211T>A	ENSP00000496133.1:n.*211T>A
ENST00000645285.1:c.*211T>A	ENSP00000495058.1:n.*211T>A
ENST00000645331.1:n.2550T>A
ENST00000645620.1:c.616T>A	ENSP00000493657.1:p.Tyr206Asn
ENST00000646691.1:n.1232T>A
ENST00000646777.1:n.1678T>A
ENST00000647016.1:n.1825T>A
ENST00000647152.1:c.616T>A	ENSP00000495893.1:p.Tyr206Asn
ENST00000647209.1:c.*1214T>A	ENSP00000495558.1:n.*1214T>A
ENST00000647346.1:n.2365T>A
ENST00000299427.10:c.1345T>A	ENSP00000299427.6:p.Tyr449Asn
ENST00000524611.1:n.223T>A
ENST00000532191.1:n.398T>A
ENST00000533371.5:c.616T>A	ENSP00000437066.1:p.Tyr206Asn
ENST00000611494.4:c.1345T>A	ENSP00000484546.1:p.Tyr449Asn
NM_000391.3:c.1345T>A	NP_000382.3:p.Tyr449Asn
NM_000391.4:c.1345T>A MANE Select	NP_000382.3:p.Tyr449Asn