Canonical Allele Identifier: CA379472661

Gene: TPP1

Linked Data

• dbSNP Id: rs1364046840
• gnomAD v2: 11-6636475-T-C
• MyVariant Identifiers: chr11:g.6636475T>C (hg19) ; chr11:g.6615244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615244T>C , CM000673.2:g.6615244T>C	GRCh38
NC_000011.9:g.6636475T>C , CM000673.1:g.6636475T>C	GRCh37
NC_000011.8:g.6593051T>C	NCBI36
NG_008653.1:g.9218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1238A>G	ENSP00000507321.1:p.Asp413Gly
ENST00000299427.12:c.1352A>G MANE Select	ENSP00000299427.6:p.Asp451Gly
ENST00000524611.2:n.212A>G
ENST00000524924.2:n.472A>G
ENST00000533371.6:c.623A>G	ENSP00000437066.1:p.Asp208Gly
ENST00000642892.1:c.623A>G	ENSP00000494165.1:p.Asp208Gly
ENST00000643342.1:c.425A>G
ENST00000643439.1:c.*1092A>G	ENSP00000495849.1:n.*1092A>G
ENST00000643479.1:n.1538A>G
ENST00000643516.1:c.861A>G
ENST00000644218.1:c.1163A>G	ENSP00000493574.1:p.Asp388Gly
ENST00000644683.1:c.*805A>G	ENSP00000494085.1:n.*805A>G
ENST00000644810.1:c.1073A>G	ENSP00000495895.1:p.Asp358Gly
ENST00000644831.1:n.1528A>G
ENST00000644933.1:c.*218A>G	ENSP00000496133.1:n.*218A>G
ENST00000645285.1:c.*218A>G	ENSP00000495058.1:n.*218A>G
ENST00000645331.1:n.2557A>G
ENST00000645620.1:c.623A>G	ENSP00000493657.1:p.Asp208Gly
ENST00000646691.1:n.1239A>G
ENST00000646777.1:n.1685A>G
ENST00000647016.1:n.1832A>G
ENST00000647152.1:c.623A>G	ENSP00000495893.1:p.Asp208Gly
ENST00000647209.1:c.*1221A>G	ENSP00000495558.1:n.*1221A>G
ENST00000647346.1:n.2372A>G
ENST00000299427.10:c.1352A>G	ENSP00000299427.6:p.Asp451Gly
ENST00000524611.1:n.230A>G
ENST00000532191.1:n.405A>G
ENST00000533371.5:c.623A>G	ENSP00000437066.1:p.Asp208Gly
ENST00000611494.4:c.1352A>G	ENSP00000484546.1:p.Asp451Gly
NM_000391.3:c.1352A>G	NP_000382.3:p.Asp451Gly
NM_000391.4:c.1352A>G MANE Select	NP_000382.3:p.Asp451Gly