Canonical Allele Identifier: CA379473022

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615513-T-C
• MyVariant Identifiers: chr11:g.6636744T>C (hg19) ; chr11:g.6615513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615513T>C , CM000673.2:g.6615513T>C	GRCh38
NC_000011.9:g.6636744T>C , CM000673.1:g.6636744T>C	GRCh37
NC_000011.8:g.6593320T>C	NCBI36
NG_008653.1:g.8949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1081A>G	ENSP00000507321.1:p.Ile361Val
ENST00000299427.12:c.1195A>G MANE Select	ENSP00000299427.6:p.Ile399Val
ENST00000436873.7:c.432A>G
ENST00000524924.2:n.315A>G
ENST00000533371.6:c.466A>G	ENSP00000437066.1:p.Ile156Val
ENST00000642892.1:c.466A>G	ENSP00000494165.1:p.Ile156Val
ENST00000643342.1:c.268A>G
ENST00000643439.1:c.*935A>G	ENSP00000495849.1:n.*935A>G
ENST00000643479.1:n.1381A>G
ENST00000643516.1:c.704A>G
ENST00000644218.1:c.1006A>G	ENSP00000493574.1:p.Ile336Val
ENST00000644683.1:c.*648A>G	ENSP00000494085.1:n.*648A>G
ENST00000644810.1:c.916A>G	ENSP00000495895.1:p.Ile306Val
ENST00000644831.1:n.1371A>G
ENST00000644933.1:c.*61A>G	ENSP00000496133.1:n.*61A>G
ENST00000645285.1:c.*61A>G	ENSP00000495058.1:n.*61A>G
ENST00000645331.1:n.2400A>G
ENST00000645620.1:c.466A>G	ENSP00000493657.1:p.Ile156Val
ENST00000646691.1:n.970A>G
ENST00000646777.1:n.1528A>G
ENST00000647016.1:n.1675A>G
ENST00000647152.1:c.466A>G	ENSP00000495893.1:p.Ile156Val
ENST00000647209.1:c.*1064A>G	ENSP00000495558.1:n.*1064A>G
ENST00000647346.1:n.2215A>G
ENST00000299427.10:c.1195A>G	ENSP00000299427.6:p.Ile399Val
ENST00000524924.1:n.150A>G
ENST00000532191.1:n.248A>G
ENST00000533371.5:c.466A>G	ENSP00000437066.1:p.Ile156Val
ENST00000611494.4:c.1195A>G	ENSP00000484546.1:p.Ile399Val
NM_000391.3:c.1195A>G	NP_000382.3:p.Ile399Val
NM_000391.4:c.1195A>G MANE Select	NP_000382.3:p.Ile399Val