Canonical Allele Identifier: CA472923063

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638982C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617751C>T , CM000673.2:g.6617751C>T	GRCh38
NC_000011.9:g.6638982C>T , CM000673.1:g.6638982C>T	GRCh37
NC_000011.8:g.6595558C>T	NCBI36
NG_008653.1:g.6711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.141G>A	ENSP00000507321.1:p.Val47=
ENST00000299427.12:c.255G>A MANE Select	ENSP00000299427.6:p.Val85=
ENST00000428886.7:n.343G>A
ENST00000436873.7:c.59G>A
ENST00000524788.2:n.1267G>A
ENST00000524903.2:n.1383G>A
ENST00000528571.6:c.115G>A	ENSP00000434647.1:p.Gly39Ser
ENST00000530040.2:n.284G>A
ENST00000533371.6:c.-475G>A	ENSP00000437066.1:n.-475G>A
ENST00000534644.6:n.256G>A
ENST00000642892.1:c.-422G>A	ENSP00000494165.1:n.-422G>A
ENST00000643439.1:c.115G>A	ENSP00000495849.1:p.Gly39Ser
ENST00000643479.1:n.284G>A
ENST00000643516.1:c.142G>A
ENST00000644151.1:n.1547G>A
ENST00000644218.1:c.255G>A	ENSP00000493574.1:p.Val85=
ENST00000644683.1:c.255G>A	ENSP00000494085.1:p.Val85=
ENST00000644810.1:c.230-598G>A	ENSP00000495895.1:n.230-598G>A
ENST00000644831.1:n.284G>A
ENST00000644933.1:c.-475G>A	ENSP00000496133.1:n.-475G>A
ENST00000645020.1:n.1283G>A
ENST00000645285.1:c.-475G>A	ENSP00000495058.1:n.-475G>A
ENST00000645331.1:n.277G>A
ENST00000645620.1:c.-417G>A	ENSP00000493657.1:n.-417G>A
ENST00000646777.1:n.284G>A
ENST00000647016.1:n.588G>A
ENST00000647152.1:c.-475G>A	ENSP00000495893.1:n.-475G>A
ENST00000647209.1:c.*124G>A	ENSP00000495558.1:n.*124G>A
ENST00000647346.1:n.1275G>A
ENST00000299427.10:c.255G>A	ENSP00000299427.6:p.Val85=
ENST00000428886.6:n.277G>A
ENST00000436873.6:c.255G>A	ENSP00000398136.2:p.Val85=
ENST00000528571.5:c.115G>A	ENSP00000434647.1:p.Gly39Ser
ENST00000528917.1:n.556G>A
ENST00000530040.1:n.367G>A
ENST00000533371.5:c.-475G>A	ENSP00000437066.1:n.-475G>A
ENST00000534644.5:n.240G>A
ENST00000611494.4:c.255G>A	ENSP00000484546.1:p.Val85=
NM_000391.3:c.255G>A	NP_000382.3:p.Val85=
NM_000391.4:c.255G>A MANE Select	NP_000382.3:p.Val85=