Canonical Allele Identifier: CA379474958

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637934T>A (hg19) ; chr11:g.6616703T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616703T>A , CM000673.2:g.6616703T>A	GRCh38
NC_000011.9:g.6637934T>A , CM000673.1:g.6637934T>A	GRCh37
NC_000011.8:g.6594510T>A	NCBI36
NG_008653.1:g.7759A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.730A>T	ENSP00000507321.1:p.Ser244Cys
ENST00000299427.12:c.844A>T MANE Select	ENSP00000299427.6:p.Ser282Cys
ENST00000436873.7:c.312+598A>T
ENST00000524788.2:n.2003A>T
ENST00000524903.2:n.2119A>T
ENST00000528807.2:n.500A>T
ENST00000530040.2:n.480-200A>T
ENST00000533371.6:c.115A>T	ENSP00000437066.1:p.Ser39Cys
ENST00000642892.1:c.115A>T	ENSP00000494165.1:p.Ser39Cys
ENST00000643439.1:c.*584A>T	ENSP00000495849.1:n.*584A>T
ENST00000643479.1:n.873A>T
ENST00000643516.1:c.396-200A>T
ENST00000644151.1:n.2283A>T
ENST00000644218.1:c.844A>T	ENSP00000493574.1:p.Ser282Cys
ENST00000644683.1:c.*297A>T	ENSP00000494085.1:n.*297A>T
ENST00000644810.1:c.565A>T	ENSP00000495895.1:p.Ser189Cys
ENST00000644831.1:n.1020A>T
ENST00000644933.1:c.115A>T	ENSP00000496133.1:p.Ser39Cys
ENST00000645020.1:n.2134A>T
ENST00000645285.1:c.115A>T	ENSP00000495058.1:p.Ser39Cys
ENST00000645331.1:n.1210A>T
ENST00000645620.1:c.115A>T	ENSP00000493657.1:p.Ser39Cys
ENST00000646777.1:n.1020A>T
ENST00000647016.1:n.1324A>T
ENST00000647152.1:c.115A>T	ENSP00000495893.1:p.Ser39Cys
ENST00000647209.1:c.*713A>T	ENSP00000495558.1:n.*713A>T
ENST00000647346.1:n.1864A>T
ENST00000299427.10:c.844A>T	ENSP00000299427.6:p.Ser282Cys
ENST00000436873.6:c.451-200A>T	ENSP00000398136.2:n.451-200A>T
ENST00000524788.1:n.544A>T
ENST00000528807.1:n.394A>T
ENST00000533371.5:c.115A>T	ENSP00000437066.1:p.Ser39Cys
ENST00000611494.4:c.844A>T	ENSP00000484546.1:p.Ser282Cys
NM_000391.3:c.844A>T	NP_000382.3:p.Ser282Cys
NM_000391.4:c.844A>T MANE Select	NP_000382.3:p.Ser282Cys