Canonical Allele Identifier: CA379472827

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636554C>T (hg19) ; chr11:g.6615323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615323C>T , CM000673.2:g.6615323C>T	GRCh38
NC_000011.9:g.6636554C>T , CM000673.1:g.6636554C>T	GRCh37
NC_000011.8:g.6593130C>T	NCBI36
NG_008653.1:g.9139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1159G>A	ENSP00000507321.1:p.Ala387Thr
ENST00000299427.12:c.1273G>A MANE Select	ENSP00000299427.6:p.Ala425Thr
ENST00000436873.7:c.510G>A
ENST00000524611.2:n.133G>A
ENST00000524924.2:n.393G>A
ENST00000533371.6:c.544G>A	ENSP00000437066.1:p.Ala182Thr
ENST00000642892.1:c.544G>A	ENSP00000494165.1:p.Ala182Thr
ENST00000643342.1:c.346G>A
ENST00000643439.1:c.*1013G>A	ENSP00000495849.1:n.*1013G>A
ENST00000643479.1:n.1459G>A
ENST00000643516.1:c.782G>A
ENST00000644218.1:c.1084G>A	ENSP00000493574.1:p.Ala362Thr
ENST00000644683.1:c.*726G>A	ENSP00000494085.1:n.*726G>A
ENST00000644810.1:c.994G>A	ENSP00000495895.1:p.Ala332Thr
ENST00000644831.1:n.1449G>A
ENST00000644933.1:c.*139G>A	ENSP00000496133.1:n.*139G>A
ENST00000645285.1:c.*139G>A	ENSP00000495058.1:n.*139G>A
ENST00000645331.1:n.2478G>A
ENST00000645620.1:c.544G>A	ENSP00000493657.1:p.Ala182Thr
ENST00000646691.1:n.1160G>A
ENST00000646777.1:n.1606G>A
ENST00000647016.1:n.1753G>A
ENST00000647152.1:c.544G>A	ENSP00000495893.1:p.Ala182Thr
ENST00000647209.1:c.*1142G>A	ENSP00000495558.1:n.*1142G>A
ENST00000647346.1:n.2293G>A
ENST00000299427.10:c.1273G>A	ENSP00000299427.6:p.Ala425Thr
ENST00000524611.1:n.151G>A
ENST00000524924.1:n.228G>A
ENST00000532191.1:n.326G>A
ENST00000533371.5:c.544G>A	ENSP00000437066.1:p.Ala182Thr
ENST00000611494.4:c.1273G>A	ENSP00000484546.1:p.Ala425Thr
NM_000391.3:c.1273G>A	NP_000382.3:p.Ala425Thr
NM_000391.4:c.1273G>A MANE Select	NP_000382.3:p.Ala425Thr