Canonical Allele Identifier: CA379473153

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636779G>T (hg19) ; chr11:g.6615548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615548G>T , CM000673.2:g.6615548G>T	GRCh38
NC_000011.9:g.6636779G>T , CM000673.1:g.6636779G>T	GRCh37
NC_000011.8:g.6593355G>T	NCBI36
NG_008653.1:g.8914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1046C>A	ENSP00000507321.1:p.Thr349Lys
ENST00000299427.12:c.1160C>A MANE Select	ENSP00000299427.6:p.Thr387Lys
ENST00000436873.7:c.397C>A
ENST00000524924.2:n.280C>A
ENST00000533371.6:c.431C>A	ENSP00000437066.1:p.Thr144Lys
ENST00000642892.1:c.431C>A	ENSP00000494165.1:p.Thr144Lys
ENST00000643342.1:c.236-3C>A
ENST00000643439.1:c.*900C>A	ENSP00000495849.1:n.*900C>A
ENST00000643479.1:n.1346C>A
ENST00000643516.1:c.669C>A
ENST00000644218.1:c.971C>A	ENSP00000493574.1:p.Thr324Lys
ENST00000644683.1:c.*613C>A	ENSP00000494085.1:n.*613C>A
ENST00000644810.1:c.881C>A	ENSP00000495895.1:p.Thr294Lys
ENST00000644831.1:n.1336C>A
ENST00000644933.1:c.*26C>A	ENSP00000496133.1:n.*26C>A
ENST00000645285.1:c.*26C>A	ENSP00000495058.1:n.*26C>A
ENST00000645331.1:n.2365C>A
ENST00000645620.1:c.431C>A	ENSP00000493657.1:p.Thr144Lys
ENST00000646691.1:n.935C>A
ENST00000646777.1:n.1493C>A
ENST00000647016.1:n.1640C>A
ENST00000647152.1:c.431C>A	ENSP00000495893.1:p.Thr144Lys
ENST00000647209.1:c.*1029C>A	ENSP00000495558.1:n.*1029C>A
ENST00000647346.1:n.2180C>A
ENST00000299427.10:c.1160C>A	ENSP00000299427.6:p.Thr387Lys
ENST00000524924.1:n.115C>A
ENST00000532191.1:n.213C>A
ENST00000533371.5:c.431C>A	ENSP00000437066.1:p.Thr144Lys
ENST00000611494.4:c.1160C>A	ENSP00000484546.1:p.Thr387Lys
NM_000391.3:c.1160C>A	NP_000382.3:p.Thr387Lys
NM_000391.4:c.1160C>A MANE Select	NP_000382.3:p.Thr387Lys