Canonical Allele Identifier: CA379473110

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636765A>T (hg19) ; chr11:g.6615534A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615534A>T , CM000673.2:g.6615534A>T	GRCh38
NC_000011.9:g.6636765A>T , CM000673.1:g.6636765A>T	GRCh37
NC_000011.8:g.6593341A>T	NCBI36
NG_008653.1:g.8928T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1060T>A	ENSP00000507321.1:p.Ser354Thr
ENST00000299427.12:c.1174T>A MANE Select	ENSP00000299427.6:p.Ser392Thr
ENST00000436873.7:c.411T>A
ENST00000524924.2:n.294T>A
ENST00000533371.6:c.445T>A	ENSP00000437066.1:p.Ser149Thr
ENST00000642892.1:c.445T>A	ENSP00000494165.1:p.Ser149Thr
ENST00000643342.1:c.247T>A
ENST00000643439.1:c.*914T>A	ENSP00000495849.1:n.*914T>A
ENST00000643479.1:n.1360T>A
ENST00000643516.1:c.683T>A
ENST00000644218.1:c.985T>A	ENSP00000493574.1:p.Ser329Thr
ENST00000644683.1:c.*627T>A	ENSP00000494085.1:n.*627T>A
ENST00000644810.1:c.895T>A	ENSP00000495895.1:p.Ser299Thr
ENST00000644831.1:n.1350T>A
ENST00000644933.1:c.*40T>A	ENSP00000496133.1:n.*40T>A
ENST00000645285.1:c.*40T>A	ENSP00000495058.1:n.*40T>A
ENST00000645331.1:n.2379T>A
ENST00000645620.1:c.445T>A	ENSP00000493657.1:p.Ser149Thr
ENST00000646691.1:n.949T>A
ENST00000646777.1:n.1507T>A
ENST00000647016.1:n.1654T>A
ENST00000647152.1:c.445T>A	ENSP00000495893.1:p.Ser149Thr
ENST00000647209.1:c.*1043T>A	ENSP00000495558.1:n.*1043T>A
ENST00000647346.1:n.2194T>A
ENST00000299427.10:c.1174T>A	ENSP00000299427.6:p.Ser392Thr
ENST00000524924.1:n.129T>A
ENST00000532191.1:n.227T>A
ENST00000533371.5:c.445T>A	ENSP00000437066.1:p.Ser149Thr
ENST00000611494.4:c.1174T>A	ENSP00000484546.1:p.Ser392Thr
NM_000391.3:c.1174T>A	NP_000382.3:p.Ser392Thr
NM_000391.4:c.1174T>A MANE Select	NP_000382.3:p.Ser392Thr