Canonical Allele Identifier: CA472922758

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638001A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616770A>C , CM000673.2:g.6616770A>C	GRCh38
NC_000011.9:g.6638001A>C , CM000673.1:g.6638001A>C	GRCh37
NC_000011.8:g.6594577A>C	NCBI36
NG_008653.1:g.7692T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.663T>G	ENSP00000507321.1:p.Arg221=
ENST00000299427.12:c.777T>G MANE Select	ENSP00000299427.6:p.Arg259=
ENST00000436873.7:c.312+531T>G
ENST00000524788.2:n.1936T>G
ENST00000524903.2:n.2052T>G
ENST00000528807.2:n.433T>G
ENST00000530040.2:n.480-267T>G
ENST00000533371.6:c.48T>G	ENSP00000437066.1:p.Arg16=
ENST00000642892.1:c.48T>G	ENSP00000494165.1:p.Arg16=
ENST00000643439.1:c.*517T>G	ENSP00000495849.1:n.*517T>G
ENST00000643479.1:n.806T>G
ENST00000643516.1:c.396-267T>G
ENST00000644151.1:n.2216T>G
ENST00000644218.1:c.777T>G	ENSP00000493574.1:p.Arg259=
ENST00000644683.1:c.*230T>G	ENSP00000494085.1:n.*230T>G
ENST00000644810.1:c.498T>G	ENSP00000495895.1:p.Arg166=
ENST00000644831.1:n.953T>G
ENST00000644933.1:c.48T>G	ENSP00000496133.1:p.Arg16=
ENST00000645020.1:n.2067T>G
ENST00000645285.1:c.48T>G	ENSP00000495058.1:p.Arg16=
ENST00000645331.1:n.1143T>G
ENST00000645620.1:c.48T>G	ENSP00000493657.1:p.Arg16=
ENST00000646777.1:n.953T>G
ENST00000647016.1:n.1257T>G
ENST00000647152.1:c.48T>G	ENSP00000495893.1:p.Arg16=
ENST00000647209.1:c.*646T>G	ENSP00000495558.1:n.*646T>G
ENST00000647346.1:n.1797T>G
ENST00000299427.10:c.777T>G	ENSP00000299427.6:p.Arg259=
ENST00000436873.6:c.451-267T>G	ENSP00000398136.2:n.451-267T>G
ENST00000524788.1:n.477T>G
ENST00000528807.1:n.327T>G
ENST00000533371.5:c.48T>G	ENSP00000437066.1:p.Arg16=
ENST00000611494.4:c.777T>G	ENSP00000484546.1:p.Arg259=
NM_000391.3:c.777T>G	NP_000382.3:p.Arg259=
NM_000391.4:c.777T>G MANE Select	NP_000382.3:p.Arg259=