Canonical Allele Identifier: CA379471964

Gene: TPP1

Linked Data

• ClinVar Variation Id: 939944
• ClinVar RCV Id: RCV001209429
• dbSNP Id: rs1855546019
• gnomAD v4: 11-6614569-G-T
• MyVariant Identifiers: chr11:g.6635800G>T (hg19) ; chr11:g.6614569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614569G>T , CM000673.2:g.6614569G>T	GRCh38
NC_000011.9:g.6635800G>T , CM000673.1:g.6635800G>T	GRCh37
NC_000011.8:g.6592376G>T	NCBI36
NG_008653.1:g.9893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1555C>A	ENSP00000507321.1:p.Leu519Met
ENST00000299427.12:c.1669C>A MANE Select	ENSP00000299427.6:p.Leu557Met
ENST00000524611.2:n.708C>A
ENST00000533371.6:c.940C>A	ENSP00000437066.1:p.Leu314Met
ENST00000642892.1:c.940C>A	ENSP00000494165.1:p.Leu314Met
ENST00000643342.1:c.742C>A
ENST00000643439.1:c.*1409C>A	ENSP00000495849.1:n.*1409C>A
ENST00000643479.1:n.1855C>A
ENST00000643516.1:c.1178C>A
ENST00000644218.1:c.1480C>A	ENSP00000493574.1:p.Leu494Met
ENST00000644683.1:c.*1122C>A	ENSP00000494085.1:n.*1122C>A
ENST00000644810.1:c.1390C>A	ENSP00000495895.1:p.Leu464Met
ENST00000644831.1:n.1845C>A
ENST00000644933.1:c.*535C>A	ENSP00000496133.1:n.*535C>A
ENST00000645285.1:c.*535C>A	ENSP00000495058.1:n.*535C>A
ENST00000645331.1:n.2874C>A
ENST00000645620.1:c.940C>A	ENSP00000493657.1:p.Leu314Met
ENST00000646691.1:n.1556C>A
ENST00000646777.1:n.2002C>A
ENST00000647016.1:n.2149C>A
ENST00000647152.1:c.940C>A	ENSP00000495893.1:p.Leu314Met
ENST00000647209.1:c.*1538C>A	ENSP00000495558.1:n.*1538C>A
ENST00000647346.1:n.2689C>A
ENST00000299427.10:c.1669C>A	ENSP00000299427.6:p.Leu557Met
ENST00000533371.5:c.940C>A	ENSP00000437066.1:p.Leu314Met
ENST00000611494.4:c.1668C>A	ENSP00000484546.1:p.Cys556Ter
NM_000391.3:c.1669C>A	NP_000382.3:p.Leu557Met
NM_000391.4:c.1669C>A MANE Select	NP_000382.3:p.Leu557Met