Canonical Allele Identifier: CA379472992

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636736A>C (hg19) ; chr11:g.6615505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615505A>C , CM000673.2:g.6615505A>C	GRCh38
NC_000011.9:g.6636736A>C , CM000673.1:g.6636736A>C	GRCh37
NC_000011.8:g.6593312A>C	NCBI36
NG_008653.1:g.8957T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1089T>G	ENSP00000507321.1:p.Asn363Lys
ENST00000299427.12:c.1203T>G MANE Select	ENSP00000299427.6:p.Asn401Lys
ENST00000436873.7:c.440T>G
ENST00000524924.2:n.323T>G
ENST00000533371.6:c.474T>G	ENSP00000437066.1:p.Asn158Lys
ENST00000642892.1:c.474T>G	ENSP00000494165.1:p.Asn158Lys
ENST00000643342.1:c.276T>G
ENST00000643439.1:c.*943T>G	ENSP00000495849.1:n.*943T>G
ENST00000643479.1:n.1389T>G
ENST00000643516.1:c.712T>G
ENST00000644218.1:c.1014T>G	ENSP00000493574.1:p.Asn338Lys
ENST00000644683.1:c.*656T>G	ENSP00000494085.1:n.*656T>G
ENST00000644810.1:c.924T>G	ENSP00000495895.1:p.Asn308Lys
ENST00000644831.1:n.1379T>G
ENST00000644933.1:c.*69T>G	ENSP00000496133.1:n.*69T>G
ENST00000645285.1:c.*69T>G	ENSP00000495058.1:n.*69T>G
ENST00000645331.1:n.2408T>G
ENST00000645620.1:c.474T>G	ENSP00000493657.1:p.Asn158Lys
ENST00000646691.1:n.978T>G
ENST00000646777.1:n.1536T>G
ENST00000647016.1:n.1683T>G
ENST00000647152.1:c.474T>G	ENSP00000495893.1:p.Asn158Lys
ENST00000647209.1:c.*1072T>G	ENSP00000495558.1:n.*1072T>G
ENST00000647346.1:n.2223T>G
ENST00000299427.10:c.1203T>G	ENSP00000299427.6:p.Asn401Lys
ENST00000524924.1:n.158T>G
ENST00000532191.1:n.256T>G
ENST00000533371.5:c.474T>G	ENSP00000437066.1:p.Asn158Lys
ENST00000611494.4:c.1203T>G	ENSP00000484546.1:p.Asn401Lys
NM_000391.3:c.1203T>G	NP_000382.3:p.Asn401Lys
NM_000391.4:c.1203T>G MANE Select	NP_000382.3:p.Asn401Lys