Canonical Allele Identifier: CA379474955

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616701-A-T
• MyVariant Identifiers: chr11:g.6637932A>T (hg19) ; chr11:g.6616701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616701A>T , CM000673.2:g.6616701A>T	GRCh38
NC_000011.9:g.6637932A>T , CM000673.1:g.6637932A>T	GRCh37
NC_000011.8:g.6594508A>T	NCBI36
NG_008653.1:g.7761T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.732T>A	ENSP00000507321.1:p.Ser244Arg
ENST00000299427.12:c.846T>A MANE Select	ENSP00000299427.6:p.Ser282Arg
ENST00000436873.7:c.312+600T>A
ENST00000524788.2:n.2005T>A
ENST00000524903.2:n.2121T>A
ENST00000528807.2:n.502T>A
ENST00000530040.2:n.480-198T>A
ENST00000533371.6:c.117T>A	ENSP00000437066.1:p.Ser39Arg
ENST00000642892.1:c.117T>A	ENSP00000494165.1:p.Ser39Arg
ENST00000643439.1:c.*586T>A	ENSP00000495849.1:n.*586T>A
ENST00000643479.1:n.875T>A
ENST00000643516.1:c.396-198T>A
ENST00000644151.1:n.2285T>A
ENST00000644218.1:c.846T>A	ENSP00000493574.1:p.Ser282Arg
ENST00000644683.1:c.*299T>A	ENSP00000494085.1:n.*299T>A
ENST00000644810.1:c.567T>A	ENSP00000495895.1:p.Ser189Arg
ENST00000644831.1:n.1022T>A
ENST00000644933.1:c.117T>A	ENSP00000496133.1:p.Ser39Arg
ENST00000645020.1:n.2136T>A
ENST00000645285.1:c.117T>A	ENSP00000495058.1:p.Ser39Arg
ENST00000645331.1:n.1212T>A
ENST00000645620.1:c.117T>A	ENSP00000493657.1:p.Ser39Arg
ENST00000646777.1:n.1022T>A
ENST00000647016.1:n.1326T>A
ENST00000647152.1:c.117T>A	ENSP00000495893.1:p.Ser39Arg
ENST00000647209.1:c.*715T>A	ENSP00000495558.1:n.*715T>A
ENST00000647346.1:n.1866T>A
ENST00000299427.10:c.846T>A	ENSP00000299427.6:p.Ser282Arg
ENST00000436873.6:c.451-198T>A	ENSP00000398136.2:n.451-198T>A
ENST00000524788.1:n.546T>A
ENST00000528807.1:n.396T>A
ENST00000533371.5:c.117T>A	ENSP00000437066.1:p.Ser39Arg
ENST00000611494.4:c.846T>A	ENSP00000484546.1:p.Ser282Arg
NM_000391.3:c.846T>A	NP_000382.3:p.Ser282Arg
NM_000391.4:c.846T>A MANE Select	NP_000382.3:p.Ser282Arg