Canonical Allele Identifier: CA379472735

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1462292
• ClinVar RCV Id: RCV001968392
• dbSNP Id: rs1360268502
• gnomAD v2: 11-6636509-T-C
• gnomAD v4: 11-6615278-T-C
• MyVariant Identifiers: chr11:g.6636509T>C (hg19) ; chr11:g.6615278T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615278T>C , CM000673.2:g.6615278T>C	GRCh38
NC_000011.9:g.6636509T>C , CM000673.1:g.6636509T>C	GRCh37
NC_000011.8:g.6593085T>C	NCBI36
NG_008653.1:g.9184A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1204A>G	ENSP00000507321.1:p.Ser402Gly
ENST00000299427.12:c.1318A>G MANE Select	ENSP00000299427.6:p.Ser440Gly
ENST00000524611.2:n.178A>G
ENST00000524924.2:n.438A>G
ENST00000533371.6:c.589A>G	ENSP00000437066.1:p.Ser197Gly
ENST00000642892.1:c.589A>G	ENSP00000494165.1:p.Ser197Gly
ENST00000643342.1:c.391A>G
ENST00000643439.1:c.*1058A>G	ENSP00000495849.1:n.*1058A>G
ENST00000643479.1:n.1504A>G
ENST00000643516.1:c.827A>G
ENST00000644218.1:c.1129A>G	ENSP00000493574.1:p.Ser377Gly
ENST00000644683.1:c.*771A>G	ENSP00000494085.1:n.*771A>G
ENST00000644810.1:c.1039A>G	ENSP00000495895.1:p.Ser347Gly
ENST00000644831.1:n.1494A>G
ENST00000644933.1:c.*184A>G	ENSP00000496133.1:n.*184A>G
ENST00000645285.1:c.*184A>G	ENSP00000495058.1:n.*184A>G
ENST00000645331.1:n.2523A>G
ENST00000645620.1:c.589A>G	ENSP00000493657.1:p.Ser197Gly
ENST00000646691.1:n.1205A>G
ENST00000646777.1:n.1651A>G
ENST00000647016.1:n.1798A>G
ENST00000647152.1:c.589A>G	ENSP00000495893.1:p.Ser197Gly
ENST00000647209.1:c.*1187A>G	ENSP00000495558.1:n.*1187A>G
ENST00000647346.1:n.2338A>G
ENST00000299427.10:c.1318A>G	ENSP00000299427.6:p.Ser440Gly
ENST00000524611.1:n.196A>G
ENST00000524924.1:n.273A>G
ENST00000532191.1:n.371A>G
ENST00000533371.5:c.589A>G	ENSP00000437066.1:p.Ser197Gly
ENST00000611494.4:c.1318A>G	ENSP00000484546.1:p.Ser440Gly
NM_000391.3:c.1318A>G	NP_000382.3:p.Ser440Gly
NM_000391.4:c.1318A>G MANE Select	NP_000382.3:p.Ser440Gly