Canonical Allele Identifier: CA472922791

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638209G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616978G>T , CM000673.2:g.6616978G>T	GRCh38
NC_000011.9:g.6638209G>T , CM000673.1:g.6638209G>T	GRCh37
NC_000011.8:g.6594785G>T	NCBI36
NG_008653.1:g.7484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.570C>A	ENSP00000507321.1:p.Ala190=
ENST00000299427.12:c.684C>A MANE Select	ENSP00000299427.6:p.Ala228=
ENST00000436873.7:c.312+323C>A
ENST00000524788.2:n.1843C>A
ENST00000524903.2:n.1959C>A
ENST00000528807.2:n.340C>A
ENST00000530040.2:n.479+381C>A
ENST00000533371.6:c.-46C>A	ENSP00000437066.1:n.-46C>A
ENST00000534644.6:n.632C>A
ENST00000642892.1:c.-46C>A	ENSP00000494165.1:n.-46C>A
ENST00000643439.1:c.*424C>A	ENSP00000495849.1:n.*424C>A
ENST00000643479.1:n.713C>A
ENST00000643516.1:c.395+323C>A
ENST00000644151.1:n.2123C>A
ENST00000644218.1:c.684C>A	ENSP00000493574.1:p.Ala228=
ENST00000644683.1:c.*137C>A	ENSP00000494085.1:n.*137C>A
ENST00000644810.1:c.405C>A	ENSP00000495895.1:p.Ala135=
ENST00000644831.1:n.860C>A
ENST00000644933.1:c.-46C>A	ENSP00000496133.1:n.-46C>A
ENST00000645020.1:n.1859C>A
ENST00000645285.1:c.-46C>A	ENSP00000495058.1:n.-46C>A
ENST00000645331.1:n.1050C>A
ENST00000645620.1:c.-46C>A	ENSP00000493657.1:n.-46C>A
ENST00000646777.1:n.860C>A
ENST00000647016.1:n.1164C>A
ENST00000647152.1:c.-46C>A	ENSP00000495893.1:n.-46C>A
ENST00000647209.1:c.*553C>A	ENSP00000495558.1:n.*553C>A
ENST00000647346.1:n.1704C>A
ENST00000299427.10:c.684C>A	ENSP00000299427.6:p.Ala228=
ENST00000436873.6:c.450+381C>A	ENSP00000398136.2:n.450+381C>A
ENST00000524788.1:n.384C>A
ENST00000528807.1:n.234C>A
ENST00000533371.5:c.-46C>A	ENSP00000437066.1:n.-46C>A
ENST00000611494.4:c.684C>A	ENSP00000484546.1:p.Ala228=
NM_000391.3:c.684C>A	NP_000382.3:p.Ala228=
NM_000391.4:c.684C>A MANE Select	NP_000382.3:p.Ala228=