Canonical Allele Identifier: CA597439883

Gene: TPP1

Linked Data

• dbSNP Id: rs1481495034
• gnomAD v2: 11-6636608-T-C
• gnomAD v3: 11-6615377-T-C
• gnomAD v4: 11-6615377-T-C
• MyVariant Identifiers: chr11:g.6636608T>C (hg19) ; chr11:g.6615377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615377T>C , CM000673.2:g.6615377T>C	GRCh38
NC_000011.9:g.6636608T>C , CM000673.1:g.6636608T>C	GRCh37
NC_000011.8:g.6593184T>C	NCBI36
NG_008653.1:g.9085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1153-48A>G	ENSP00000507321.1:n.1153-48A>G
ENST00000299427.12:c.1267-48A>G MANE Select	ENSP00000299427.6:n.1267-48A>G
ENST00000436873.7:c.504-48A>G
ENST00000524611.2:n.79A>G
ENST00000524924.2:n.387-48A>G
ENST00000533371.6:c.538-48A>G	ENSP00000437066.1:n.538-48A>G
ENST00000642892.1:c.538-48A>G	ENSP00000494165.1:n.538-48A>G
ENST00000643342.1:c.340-48A>G
ENST00000643439.1:c.*1007-48A>G	ENSP00000495849.1:n.*1007-48A>G
ENST00000643479.1:n.1453-48A>G
ENST00000643516.1:c.776-48A>G
ENST00000644218.1:c.1078-48A>G	ENSP00000493574.1:n.1078-48A>G
ENST00000644683.1:c.*720-48A>G	ENSP00000494085.1:n.*720-48A>G
ENST00000644810.1:c.988-48A>G	ENSP00000495895.1:n.988-48A>G
ENST00000644831.1:n.1443-48A>G
ENST00000644933.1:c.*133-48A>G	ENSP00000496133.1:n.*133-48A>G
ENST00000645285.1:c.*133-48A>G	ENSP00000495058.1:n.*133-48A>G
ENST00000645331.1:n.2472-48A>G
ENST00000645620.1:c.538-48A>G	ENSP00000493657.1:n.538-48A>G
ENST00000646691.1:n.1106A>G
ENST00000646777.1:n.1600-48A>G
ENST00000647016.1:n.1747-48A>G
ENST00000647152.1:c.538-48A>G	ENSP00000495893.1:n.538-48A>G
ENST00000647209.1:c.*1136-48A>G	ENSP00000495558.1:n.*1136-48A>G
ENST00000647346.1:n.2287-48A>G
ENST00000299427.10:c.1267-48A>G	ENSP00000299427.6:n.1267-48A>G
ENST00000524611.1:n.97A>G
ENST00000524924.1:n.222-48A>G
ENST00000532191.1:n.320-48A>G
ENST00000533371.5:c.538-48A>G	ENSP00000437066.1:n.538-48A>G
ENST00000611494.4:c.1267-48A>G	ENSP00000484546.1:n.1267-48A>G
NM_000391.3:c.1267-48A>G	NP_000382.3:n.1267-48A>G
NM_000391.4:c.1267-48A>G MANE Select	NP_000382.3:n.1267-48A>G