Canonical Allele Identifier: CA379473081

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615528-G-A
• MyVariant Identifiers: chr11:g.6636759G>A (hg19) ; chr11:g.6615528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615528G>A , CM000673.2:g.6615528G>A	GRCh38
NC_000011.9:g.6636759G>A , CM000673.1:g.6636759G>A	GRCh37
NC_000011.8:g.6593335G>A	NCBI36
NG_008653.1:g.8934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1066C>T	ENSP00000507321.1:p.Gln356Ter
ENST00000299427.12:c.1180C>T MANE Select	ENSP00000299427.6:p.Gln394Ter
ENST00000436873.7:c.417C>T
ENST00000524924.2:n.300C>T
ENST00000533371.6:c.451C>T	ENSP00000437066.1:p.Gln151Ter
ENST00000642892.1:c.451C>T	ENSP00000494165.1:p.Gln151Ter
ENST00000643342.1:c.253C>T
ENST00000643439.1:c.*920C>T	ENSP00000495849.1:n.*920C>T
ENST00000643479.1:n.1366C>T
ENST00000643516.1:c.689C>T
ENST00000644218.1:c.991C>T	ENSP00000493574.1:p.Gln331Ter
ENST00000644683.1:c.*633C>T	ENSP00000494085.1:n.*633C>T
ENST00000644810.1:c.901C>T	ENSP00000495895.1:p.Gln301Ter
ENST00000644831.1:n.1356C>T
ENST00000644933.1:c.*46C>T	ENSP00000496133.1:n.*46C>T
ENST00000645285.1:c.*46C>T	ENSP00000495058.1:n.*46C>T
ENST00000645331.1:n.2385C>T
ENST00000645620.1:c.451C>T	ENSP00000493657.1:p.Gln151Ter
ENST00000646691.1:n.955C>T
ENST00000646777.1:n.1513C>T
ENST00000647016.1:n.1660C>T
ENST00000647152.1:c.451C>T	ENSP00000495893.1:p.Gln151Ter
ENST00000647209.1:c.*1049C>T	ENSP00000495558.1:n.*1049C>T
ENST00000647346.1:n.2200C>T
ENST00000299427.10:c.1180C>T	ENSP00000299427.6:p.Gln394Ter
ENST00000524924.1:n.135C>T
ENST00000532191.1:n.233C>T
ENST00000533371.5:c.451C>T	ENSP00000437066.1:p.Gln151Ter
ENST00000611494.4:c.1180C>T	ENSP00000484546.1:p.Gln394Ter
NM_000391.3:c.1180C>T	NP_000382.3:p.Gln394Ter
NM_000391.4:c.1180C>T MANE Select	NP_000382.3:p.Gln394Ter