Canonical Allele Identifier: CA379475679

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638537T>G (hg19) ; chr11:g.6617306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617306T>G , CM000673.2:g.6617306T>G	GRCh38
NC_000011.9:g.6638537T>G , CM000673.1:g.6638537T>G	GRCh37
NC_000011.8:g.6595113T>G	NCBI36
NG_008653.1:g.7156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.389A>C	ENSP00000507321.1:p.Asp130Ala
ENST00000299427.12:c.503A>C MANE Select	ENSP00000299427.6:p.Asp168Ala
ENST00000428886.7:n.591A>C
ENST00000436873.7:c.307A>C
ENST00000524788.2:n.1515A>C
ENST00000524903.2:n.1631A>C
ENST00000528571.6:c.*243A>C	ENSP00000434647.1:n.*243A>C
ENST00000528807.2:n.159A>C
ENST00000530040.2:n.479+53A>C
ENST00000533371.6:c.-227A>C	ENSP00000437066.1:n.-227A>C
ENST00000534644.6:n.456+48A>C
ENST00000642892.1:c.-222+48A>C	ENSP00000494165.1:n.-222+48A>C
ENST00000643439.1:c.*243A>C	ENSP00000495849.1:n.*243A>C
ENST00000643479.1:n.532A>C
ENST00000643516.1:c.390A>C
ENST00000644151.1:n.1795A>C
ENST00000644218.1:c.503A>C	ENSP00000493574.1:p.Asp168Ala
ENST00000644683.1:c.450+53A>C	ENSP00000494085.1:n.450+53A>C
ENST00000644810.1:c.230-153A>C	ENSP00000495895.1:n.230-153A>C
ENST00000644831.1:n.532A>C
ENST00000644933.1:c.-227A>C	ENSP00000496133.1:n.-227A>C
ENST00000645020.1:n.1531A>C
ENST00000645285.1:c.-227A>C	ENSP00000495058.1:n.-227A>C
ENST00000645331.1:n.722A>C
ENST00000645620.1:c.-222+53A>C	ENSP00000493657.1:n.-222+53A>C
ENST00000646777.1:n.532A>C
ENST00000647016.1:n.836A>C
ENST00000647152.1:c.-227A>C	ENSP00000495893.1:n.-227A>C
ENST00000647209.1:c.*372A>C	ENSP00000495558.1:n.*372A>C
ENST00000647346.1:n.1523A>C
ENST00000299427.10:c.503A>C	ENSP00000299427.6:p.Asp168Ala
ENST00000428886.6:n.525A>C
ENST00000436873.6:c.450+53A>C	ENSP00000398136.2:n.450+53A>C
ENST00000524788.1:n.56A>C
ENST00000528571.5:c.*243A>C	ENSP00000434647.1:n.*243A>C
ENST00000533371.5:c.-227A>C	ENSP00000437066.1:n.-227A>C
ENST00000534644.5:n.488A>C
ENST00000611494.4:c.503A>C	ENSP00000484546.1:p.Asp168Ala
NM_000391.3:c.503A>C	NP_000382.3:p.Asp168Ala
NM_000391.4:c.503A>C MANE Select	NP_000382.3:p.Asp168Ala