Canonical Allele Identifier: CA1950237124

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616671G= , CM000673.2:g.6616671G=	GRCh38
NC_000011.9:g.6637902G= , CM000673.1:g.6637902G=	GRCh37
NC_000011.8:g.6594478G=	NCBI36
NG_008653.1:g.7791C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.762C=	ENSP00000507321.1:p.Tyr254=
ENST00000299427.12:c.876C= MANE Select	ENSP00000299427.6:p.Tyr292=
ENST00000436873.7:c.313-597C=
ENST00000524788.2:n.2035C=
ENST00000524903.2:n.2151C=
ENST00000528807.2:n.532C=
ENST00000530040.2:n.480-168C=
ENST00000533371.6:c.147C=	ENSP00000437066.1:p.Tyr49=
ENST00000642892.1:c.147C=	ENSP00000494165.1:p.Tyr49=
ENST00000643439.1:c.*616C=	ENSP00000495849.1:n.*616C=
ENST00000643479.1:n.905C=
ENST00000643516.1:c.396-168C=
ENST00000644151.1:n.2315C=
ENST00000644218.1:c.876C=	ENSP00000493574.1:p.Tyr292=
ENST00000644683.1:c.*329C=	ENSP00000494085.1:n.*329C=
ENST00000644810.1:c.597C=	ENSP00000495895.1:p.Tyr199=
ENST00000644831.1:n.1052C=
ENST00000644933.1:c.147C=	ENSP00000496133.1:p.Tyr49=
ENST00000645020.1:n.2166C=
ENST00000645285.1:c.147C=	ENSP00000495058.1:p.Tyr49=
ENST00000645331.1:n.1242C=
ENST00000645620.1:c.147C=	ENSP00000493657.1:p.Tyr49=
ENST00000646777.1:n.1052C=
ENST00000647016.1:n.1356C=
ENST00000647152.1:c.147C=	ENSP00000495893.1:p.Tyr49=
ENST00000647209.1:c.*745C=	ENSP00000495558.1:n.*745C=
ENST00000647346.1:n.1896C=
ENST00000299427.10:c.876C=	ENSP00000299427.6:p.Tyr292=
ENST00000436873.6:c.451-168C=	ENSP00000398136.2:n.451-168C=
ENST00000528807.1:n.426C=
ENST00000533371.5:c.147C=	ENSP00000437066.1:p.Tyr49=
ENST00000611494.4:c.876C=	ENSP00000484546.1:p.Tyr292=
NM_000391.3:c.876C=	NP_000382.3:p.Tyr292=
NM_000391.4:c.876C= MANE Select	NP_000382.3:p.Tyr292=