Canonical Allele Identifier: CA379472709

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636498A>C (hg19) ; chr11:g.6615267A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615267A>C , CM000673.2:g.6615267A>C	GRCh38
NC_000011.9:g.6636498A>C , CM000673.1:g.6636498A>C	GRCh37
NC_000011.8:g.6593074A>C	NCBI36
NG_008653.1:g.9195T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1215T>G	ENSP00000507321.1:p.Asn405Lys
ENST00000299427.12:c.1329T>G MANE Select	ENSP00000299427.6:p.Asn443Lys
ENST00000524611.2:n.189T>G
ENST00000524924.2:n.449T>G
ENST00000533371.6:c.600T>G	ENSP00000437066.1:p.Asn200Lys
ENST00000642892.1:c.600T>G	ENSP00000494165.1:p.Asn200Lys
ENST00000643342.1:c.402T>G
ENST00000643439.1:c.*1069T>G	ENSP00000495849.1:n.*1069T>G
ENST00000643479.1:n.1515T>G
ENST00000643516.1:c.838T>G
ENST00000644218.1:c.1140T>G	ENSP00000493574.1:p.Asn380Lys
ENST00000644683.1:c.*782T>G	ENSP00000494085.1:n.*782T>G
ENST00000644810.1:c.1050T>G	ENSP00000495895.1:p.Asn350Lys
ENST00000644831.1:n.1505T>G
ENST00000644933.1:c.*195T>G	ENSP00000496133.1:n.*195T>G
ENST00000645285.1:c.*195T>G	ENSP00000495058.1:n.*195T>G
ENST00000645331.1:n.2534T>G
ENST00000645620.1:c.600T>G	ENSP00000493657.1:p.Asn200Lys
ENST00000646691.1:n.1216T>G
ENST00000646777.1:n.1662T>G
ENST00000647016.1:n.1809T>G
ENST00000647152.1:c.600T>G	ENSP00000495893.1:p.Asn200Lys
ENST00000647209.1:c.*1198T>G	ENSP00000495558.1:n.*1198T>G
ENST00000647346.1:n.2349T>G
ENST00000299427.10:c.1329T>G	ENSP00000299427.6:p.Asn443Lys
ENST00000524611.1:n.207T>G
ENST00000524924.1:n.284T>G
ENST00000532191.1:n.382T>G
ENST00000533371.5:c.600T>G	ENSP00000437066.1:p.Asn200Lys
ENST00000611494.4:c.1329T>G	ENSP00000484546.1:p.Asn443Lys
NM_000391.3:c.1329T>G	NP_000382.3:p.Asn443Lys
NM_000391.4:c.1329T>G MANE Select	NP_000382.3:p.Asn443Lys