Canonical Allele Identifier: CA379472836

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636558C>A (hg19) ; chr11:g.6615327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615327C>A , CM000673.2:g.6615327C>A	GRCh38
NC_000011.9:g.6636558C>A , CM000673.1:g.6636558C>A	GRCh37
NC_000011.8:g.6593134C>A	NCBI36
NG_008653.1:g.9135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1155G>T	ENSP00000507321.1:p.Glu385Asp
ENST00000299427.12:c.1269G>T MANE Select	ENSP00000299427.6:p.Glu423Asp
ENST00000436873.7:c.506G>T
ENST00000524611.2:n.129G>T
ENST00000524924.2:n.389G>T
ENST00000533371.6:c.540G>T	ENSP00000437066.1:p.Glu180Asp
ENST00000642892.1:c.540G>T	ENSP00000494165.1:p.Glu180Asp
ENST00000643342.1:c.342G>T
ENST00000643439.1:c.*1009G>T	ENSP00000495849.1:n.*1009G>T
ENST00000643479.1:n.1455G>T
ENST00000643516.1:c.778G>T
ENST00000644218.1:c.1080G>T	ENSP00000493574.1:p.Glu360Asp
ENST00000644683.1:c.*722G>T	ENSP00000494085.1:n.*722G>T
ENST00000644810.1:c.990G>T	ENSP00000495895.1:p.Glu330Asp
ENST00000644831.1:n.1445G>T
ENST00000644933.1:c.*135G>T	ENSP00000496133.1:n.*135G>T
ENST00000645285.1:c.*135G>T	ENSP00000495058.1:n.*135G>T
ENST00000645331.1:n.2474G>T
ENST00000645620.1:c.540G>T	ENSP00000493657.1:p.Glu180Asp
ENST00000646691.1:n.1156G>T
ENST00000646777.1:n.1602G>T
ENST00000647016.1:n.1749G>T
ENST00000647152.1:c.540G>T	ENSP00000495893.1:p.Glu180Asp
ENST00000647209.1:c.*1138G>T	ENSP00000495558.1:n.*1138G>T
ENST00000647346.1:n.2289G>T
ENST00000299427.10:c.1269G>T	ENSP00000299427.6:p.Glu423Asp
ENST00000524611.1:n.147G>T
ENST00000524924.1:n.224G>T
ENST00000532191.1:n.322G>T
ENST00000533371.5:c.540G>T	ENSP00000437066.1:p.Glu180Asp
ENST00000611494.4:c.1269G>T	ENSP00000484546.1:p.Glu423Asp
NM_000391.3:c.1269G>T	NP_000382.3:p.Glu423Asp
NM_000391.4:c.1269G>T MANE Select	NP_000382.3:p.Glu423Asp