Canonical Allele Identifier: CA379475762

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638567T>A (hg19) ; chr11:g.6617336T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617336T>A , CM000673.2:g.6617336T>A	GRCh38
NC_000011.9:g.6638567T>A , CM000673.1:g.6638567T>A	GRCh37
NC_000011.8:g.6595143T>A	NCBI36
NG_008653.1:g.7126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.359A>T	ENSP00000507321.1:p.Gln120Leu
ENST00000299427.12:c.473A>T MANE Select	ENSP00000299427.6:p.Gln158Leu
ENST00000428886.7:n.561A>T
ENST00000436873.7:c.277A>T
ENST00000524788.2:n.1485A>T
ENST00000524903.2:n.1601A>T
ENST00000528571.6:c.*213A>T	ENSP00000434647.1:n.*213A>T
ENST00000528807.2:n.129A>T
ENST00000530040.2:n.479+23A>T
ENST00000533371.6:c.-257A>T	ENSP00000437066.1:n.-257A>T
ENST00000534644.6:n.456+18A>T
ENST00000642892.1:c.-222+18A>T	ENSP00000494165.1:n.-222+18A>T
ENST00000643439.1:c.*213A>T	ENSP00000495849.1:n.*213A>T
ENST00000643479.1:n.502A>T
ENST00000643516.1:c.360A>T
ENST00000644151.1:n.1765A>T
ENST00000644218.1:c.473A>T	ENSP00000493574.1:p.Gln158Leu
ENST00000644683.1:c.450+23A>T	ENSP00000494085.1:n.450+23A>T
ENST00000644810.1:c.230-183A>T	ENSP00000495895.1:n.230-183A>T
ENST00000644831.1:n.502A>T
ENST00000644933.1:c.-257A>T	ENSP00000496133.1:n.-257A>T
ENST00000645020.1:n.1501A>T
ENST00000645285.1:c.-257A>T	ENSP00000495058.1:n.-257A>T
ENST00000645331.1:n.692A>T
ENST00000645620.1:c.-222+23A>T	ENSP00000493657.1:n.-222+23A>T
ENST00000646777.1:n.502A>T
ENST00000647016.1:n.806A>T
ENST00000647152.1:c.-257A>T	ENSP00000495893.1:n.-257A>T
ENST00000647209.1:c.*342A>T	ENSP00000495558.1:n.*342A>T
ENST00000647346.1:n.1493A>T
ENST00000299427.10:c.473A>T	ENSP00000299427.6:p.Gln158Leu
ENST00000428886.6:n.495A>T
ENST00000436873.6:c.450+23A>T	ENSP00000398136.2:n.450+23A>T
ENST00000524788.1:n.26A>T
ENST00000528571.5:c.*213A>T	ENSP00000434647.1:n.*213A>T
ENST00000533371.5:c.-257A>T	ENSP00000437066.1:n.-257A>T
ENST00000534644.5:n.458A>T
ENST00000611494.4:c.473A>T	ENSP00000484546.1:p.Gln158Leu
NM_000391.3:c.473A>T	NP_000382.3:p.Gln158Leu
NM_000391.4:c.473A>T MANE Select	NP_000382.3:p.Gln158Leu