Canonical Allele Identifier: CA379472625

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636457T>G (hg19) ; chr11:g.6615226T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615226T>G , CM000673.2:g.6615226T>G	GRCh38
NC_000011.9:g.6636457T>G , CM000673.1:g.6636457T>G	GRCh37
NC_000011.8:g.6593033T>G	NCBI36
NG_008653.1:g.9236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1256A>C	ENSP00000507321.1:p.Asp419Ala
ENST00000299427.12:c.1370A>C MANE Select	ENSP00000299427.6:p.Asp457Ala
ENST00000524611.2:n.230A>C
ENST00000524924.2:n.490A>C
ENST00000533371.6:c.641A>C	ENSP00000437066.1:p.Asp214Ala
ENST00000642892.1:c.641A>C	ENSP00000494165.1:p.Asp214Ala
ENST00000643342.1:c.443A>C
ENST00000643439.1:c.*1110A>C	ENSP00000495849.1:n.*1110A>C
ENST00000643479.1:n.1556A>C
ENST00000643516.1:c.879A>C
ENST00000644218.1:c.1181A>C	ENSP00000493574.1:p.Asp394Ala
ENST00000644683.1:c.*823A>C	ENSP00000494085.1:n.*823A>C
ENST00000644810.1:c.1091A>C	ENSP00000495895.1:p.Asp364Ala
ENST00000644831.1:n.1546A>C
ENST00000644933.1:c.*236A>C	ENSP00000496133.1:n.*236A>C
ENST00000645285.1:c.*236A>C	ENSP00000495058.1:n.*236A>C
ENST00000645331.1:n.2575A>C
ENST00000645620.1:c.641A>C	ENSP00000493657.1:p.Asp214Ala
ENST00000646691.1:n.1257A>C
ENST00000646777.1:n.1703A>C
ENST00000647016.1:n.1850A>C
ENST00000647152.1:c.641A>C	ENSP00000495893.1:p.Asp214Ala
ENST00000647209.1:c.*1239A>C	ENSP00000495558.1:n.*1239A>C
ENST00000647346.1:n.2390A>C
ENST00000299427.10:c.1370A>C	ENSP00000299427.6:p.Asp457Ala
ENST00000524611.1:n.248A>C
ENST00000532191.1:n.423A>C
ENST00000533371.5:c.641A>C	ENSP00000437066.1:p.Asp214Ala
ENST00000611494.4:c.1370A>C	ENSP00000484546.1:p.Asp457Ala
NM_000391.3:c.1370A>C	NP_000382.3:p.Asp457Ala
NM_000391.4:c.1370A>C MANE Select	NP_000382.3:p.Asp457Ala