Canonical Allele Identifier: CA379476036

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638642A>T (hg19) ; chr11:g.6617411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617411A>T , CM000673.2:g.6617411A>T	GRCh38
NC_000011.9:g.6638642A>T , CM000673.1:g.6638642A>T	GRCh37
NC_000011.8:g.6595218A>T	NCBI36
NG_008653.1:g.7051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.284T>A	ENSP00000507321.1:p.Leu95His
ENST00000299427.12:c.398T>A MANE Select	ENSP00000299427.6:p.Leu133His
ENST00000428886.7:n.486T>A
ENST00000436873.7:c.202T>A
ENST00000524788.2:n.1410T>A
ENST00000524903.2:n.1526T>A
ENST00000528571.6:c.*138T>A	ENSP00000434647.1:n.*138T>A
ENST00000528807.2:n.54T>A
ENST00000530040.2:n.427T>A
ENST00000533371.6:c.-332T>A	ENSP00000437066.1:n.-332T>A
ENST00000534644.6:n.399T>A
ENST00000642892.1:c.-279T>A	ENSP00000494165.1:n.-279T>A
ENST00000643439.1:c.*138T>A	ENSP00000495849.1:n.*138T>A
ENST00000643479.1:n.427T>A
ENST00000643516.1:c.285T>A
ENST00000644151.1:n.1690T>A
ENST00000644218.1:c.398T>A	ENSP00000493574.1:p.Leu133His
ENST00000644683.1:c.398T>A	ENSP00000494085.1:p.Leu133His
ENST00000644810.1:c.230-258T>A	ENSP00000495895.1:n.230-258T>A
ENST00000644831.1:n.427T>A
ENST00000644933.1:c.-332T>A	ENSP00000496133.1:n.-332T>A
ENST00000645020.1:n.1426T>A
ENST00000645285.1:c.-332T>A	ENSP00000495058.1:n.-332T>A
ENST00000645331.1:n.617T>A
ENST00000645620.1:c.-274T>A	ENSP00000493657.1:n.-274T>A
ENST00000646777.1:n.427T>A
ENST00000647016.1:n.731T>A
ENST00000647152.1:c.-332T>A	ENSP00000495893.1:n.-332T>A
ENST00000647209.1:c.*267T>A	ENSP00000495558.1:n.*267T>A
ENST00000647346.1:n.1418T>A
ENST00000299427.10:c.398T>A	ENSP00000299427.6:p.Leu133His
ENST00000428886.6:n.420T>A
ENST00000436873.6:c.398T>A	ENSP00000398136.2:p.Leu133His
ENST00000528571.5:c.*138T>A	ENSP00000434647.1:n.*138T>A
ENST00000530040.1:n.510T>A
ENST00000533371.5:c.-332T>A	ENSP00000437066.1:n.-332T>A
ENST00000534644.5:n.383T>A
ENST00000611494.4:c.398T>A	ENSP00000484546.1:p.Leu133His
NM_000391.3:c.398T>A	NP_000382.3:p.Leu133His
NM_000391.4:c.398T>A MANE Select	NP_000382.3:p.Leu133His