Canonical Allele Identifier: CA1950237325

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1004387
• ClinVar RCV Id: RCV001301082
• dbSNP Id: rs1855592380

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616774_6616775delinsTA , CM000673.2:g.6616774_6616775delinsTA	GRCh38
NC_000011.9:g.6638005_6638006delinsTA , CM000673.1:g.6638005_6638006delinsTA	GRCh37
NC_000011.8:g.6594581_6594582delinsTA	NCBI36
NG_008653.1:g.7687_7688delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.658_659delinsTA	ENSP00000507321.1:p.Ala220Tyr
ENST00000299427.12:c.772_773delinsTA MANE Select	ENSP00000299427.6:p.Ala258Tyr
ENST00000436873.7:c.312+526_312+527delinsTA
ENST00000524788.2:n.1931_1932delinsTA
ENST00000524903.2:n.2047_2048delinsTA
ENST00000528807.2:n.428_429delinsTA
ENST00000530040.2:n.480-272_480-271delinsTA
ENST00000533371.6:c.43_44delinsTA	ENSP00000437066.1:p.Ala15Tyr
ENST00000642892.1:c.43_44delinsTA	ENSP00000494165.1:p.Ala15Tyr
ENST00000643439.1:c.*512_*513delinsTA	ENSP00000495849.1:n.*512_*513delinsTA
ENST00000643479.1:n.801_802delinsTA
ENST00000643516.1:c.396-272_396-271delinsTA
ENST00000644151.1:n.2211_2212delinsTA
ENST00000644218.1:c.772_773delinsTA	ENSP00000493574.1:p.Ala258Tyr
ENST00000644683.1:c.*225_*226delinsTA	ENSP00000494085.1:n.*225_*226delinsTA
ENST00000644810.1:c.493_494delinsTA	ENSP00000495895.1:p.Ala165Tyr
ENST00000644831.1:n.948_949delinsTA
ENST00000644933.1:c.43_44delinsTA	ENSP00000496133.1:p.Ala15Tyr
ENST00000645020.1:n.2062_2063delinsTA
ENST00000645285.1:c.43_44delinsTA	ENSP00000495058.1:p.Ala15Tyr
ENST00000645331.1:n.1138_1139delinsTA
ENST00000645620.1:c.43_44delinsTA	ENSP00000493657.1:p.Ala15Tyr
ENST00000646777.1:n.948_949delinsTA
ENST00000647016.1:n.1252_1253delinsTA
ENST00000647152.1:c.43_44delinsTA	ENSP00000495893.1:p.Ala15Tyr
ENST00000647209.1:c.*641_*642delinsTA	ENSP00000495558.1:n.*641_*642delinsTA
ENST00000647346.1:n.1792_1793delinsTA
ENST00000299427.10:c.772_773delinsTA	ENSP00000299427.6:p.Ala258Tyr
ENST00000436873.6:c.451-272_451-271delinsTA	ENSP00000398136.2:n.451-272_451-271delinsTA
ENST00000524788.1:n.472_473delinsTA
ENST00000528807.1:n.322_323delinsTA
ENST00000533371.5:c.43_44delinsTA	ENSP00000437066.1:p.Ala15Tyr
ENST00000611494.4:c.772_773delinsTA	ENSP00000484546.1:p.Ala258Tyr
NM_000391.3:c.772_773delinsTA	NP_000382.3:p.Ala258Tyr
NM_000391.4:c.772_773delinsTA MANE Select	NP_000382.3:p.Ala258Tyr