Canonical Allele Identifier: CA379475712

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638555G>A (hg19) ; chr11:g.6617324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617324G>A , CM000673.2:g.6617324G>A	GRCh38
NC_000011.9:g.6638555G>A , CM000673.1:g.6638555G>A	GRCh37
NC_000011.8:g.6595131G>A	NCBI36
NG_008653.1:g.7138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.371C>T	ENSP00000507321.1:p.Ala124Val
ENST00000299427.12:c.485C>T MANE Select	ENSP00000299427.6:p.Ala162Val
ENST00000428886.7:n.573C>T
ENST00000436873.7:c.289C>T
ENST00000524788.2:n.1497C>T
ENST00000524903.2:n.1613C>T
ENST00000528571.6:c.*225C>T	ENSP00000434647.1:n.*225C>T
ENST00000528807.2:n.141C>T
ENST00000530040.2:n.479+35C>T
ENST00000533371.6:c.-245C>T	ENSP00000437066.1:n.-245C>T
ENST00000534644.6:n.456+30C>T
ENST00000642892.1:c.-222+30C>T	ENSP00000494165.1:n.-222+30C>T
ENST00000643439.1:c.*225C>T	ENSP00000495849.1:n.*225C>T
ENST00000643479.1:n.514C>T
ENST00000643516.1:c.372C>T
ENST00000644151.1:n.1777C>T
ENST00000644218.1:c.485C>T	ENSP00000493574.1:p.Ala162Val
ENST00000644683.1:c.450+35C>T	ENSP00000494085.1:n.450+35C>T
ENST00000644810.1:c.230-171C>T	ENSP00000495895.1:n.230-171C>T
ENST00000644831.1:n.514C>T
ENST00000644933.1:c.-245C>T	ENSP00000496133.1:n.-245C>T
ENST00000645020.1:n.1513C>T
ENST00000645285.1:c.-245C>T	ENSP00000495058.1:n.-245C>T
ENST00000645331.1:n.704C>T
ENST00000645620.1:c.-222+35C>T	ENSP00000493657.1:n.-222+35C>T
ENST00000646777.1:n.514C>T
ENST00000647016.1:n.818C>T
ENST00000647152.1:c.-245C>T	ENSP00000495893.1:n.-245C>T
ENST00000647209.1:c.*354C>T	ENSP00000495558.1:n.*354C>T
ENST00000647346.1:n.1505C>T
ENST00000299427.10:c.485C>T	ENSP00000299427.6:p.Ala162Val
ENST00000428886.6:n.507C>T
ENST00000436873.6:c.450+35C>T	ENSP00000398136.2:n.450+35C>T
ENST00000524788.1:n.38C>T
ENST00000528571.5:c.*225C>T	ENSP00000434647.1:n.*225C>T
ENST00000533371.5:c.-245C>T	ENSP00000437066.1:n.-245C>T
ENST00000534644.5:n.470C>T
ENST00000611494.4:c.485C>T	ENSP00000484546.1:p.Ala162Val
NM_000391.3:c.485C>T	NP_000382.3:p.Ala162Val
NM_000391.4:c.485C>T MANE Select	NP_000382.3:p.Ala162Val