Canonical Allele Identifier: CA379472648

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636469G>T (hg19) ; chr11:g.6615238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615238G>T , CM000673.2:g.6615238G>T	GRCh38
NC_000011.9:g.6636469G>T , CM000673.1:g.6636469G>T	GRCh37
NC_000011.8:g.6593045G>T	NCBI36
NG_008653.1:g.9224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1244C>A	ENSP00000507321.1:p.Ala415Asp
ENST00000299427.12:c.1358C>A MANE Select	ENSP00000299427.6:p.Ala453Asp
ENST00000524611.2:n.218C>A
ENST00000524924.2:n.478C>A
ENST00000533371.6:c.629C>A	ENSP00000437066.1:p.Ala210Asp
ENST00000642892.1:c.629C>A	ENSP00000494165.1:p.Ala210Asp
ENST00000643342.1:c.431C>A
ENST00000643439.1:c.*1098C>A	ENSP00000495849.1:n.*1098C>A
ENST00000643479.1:n.1544C>A
ENST00000643516.1:c.867C>A
ENST00000644218.1:c.1169C>A	ENSP00000493574.1:p.Ala390Asp
ENST00000644683.1:c.*811C>A	ENSP00000494085.1:n.*811C>A
ENST00000644810.1:c.1079C>A	ENSP00000495895.1:p.Ala360Asp
ENST00000644831.1:n.1534C>A
ENST00000644933.1:c.*224C>A	ENSP00000496133.1:n.*224C>A
ENST00000645285.1:c.*224C>A	ENSP00000495058.1:n.*224C>A
ENST00000645331.1:n.2563C>A
ENST00000645620.1:c.629C>A	ENSP00000493657.1:p.Ala210Asp
ENST00000646691.1:n.1245C>A
ENST00000646777.1:n.1691C>A
ENST00000647016.1:n.1838C>A
ENST00000647152.1:c.629C>A	ENSP00000495893.1:p.Ala210Asp
ENST00000647209.1:c.*1227C>A	ENSP00000495558.1:n.*1227C>A
ENST00000647346.1:n.2378C>A
ENST00000299427.10:c.1358C>A	ENSP00000299427.6:p.Ala453Asp
ENST00000524611.1:n.236C>A
ENST00000532191.1:n.411C>A
ENST00000533371.5:c.629C>A	ENSP00000437066.1:p.Ala210Asp
ENST00000611494.4:c.1358C>A	ENSP00000484546.1:p.Ala453Asp
NM_000391.3:c.1358C>A	NP_000382.3:p.Ala453Asp
NM_000391.4:c.1358C>A MANE Select	NP_000382.3:p.Ala453Asp