Canonical Allele Identifier: CA1950237794

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617026G= , CM000673.2:g.6617026G=	GRCh38
NC_000011.9:g.6638257G= , CM000673.1:g.6638257G=	GRCh37
NC_000011.8:g.6594833G=	NCBI36
NG_008653.1:g.7436C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.522C=	ENSP00000507321.1:p.Thr174=
ENST00000299427.12:c.636C= MANE Select	ENSP00000299427.6:p.Thr212=
ENST00000436873.7:c.312+275C=
ENST00000524788.2:n.1795C=
ENST00000524903.2:n.1911C=
ENST00000528807.2:n.292C=
ENST00000530040.2:n.479+333C=
ENST00000533371.6:c.-94C=	ENSP00000437066.1:n.-94C=
ENST00000534644.6:n.584C=
ENST00000642892.1:c.-94C=	ENSP00000494165.1:n.-94C=
ENST00000643439.1:c.*376C=	ENSP00000495849.1:n.*376C=
ENST00000643479.1:n.665C=
ENST00000643516.1:c.395+275C=
ENST00000644151.1:n.2075C=
ENST00000644218.1:c.636C=	ENSP00000493574.1:p.Thr212=
ENST00000644683.1:c.*89C=	ENSP00000494085.1:n.*89C=
ENST00000644810.1:c.357C=	ENSP00000495895.1:p.Thr119=
ENST00000644831.1:n.812C=
ENST00000644933.1:c.-94C=	ENSP00000496133.1:n.-94C=
ENST00000645020.1:n.1811C=
ENST00000645285.1:c.-94C=	ENSP00000495058.1:n.-94C=
ENST00000645331.1:n.1002C=
ENST00000645620.1:c.-94C=	ENSP00000493657.1:n.-94C=
ENST00000646777.1:n.812C=
ENST00000647016.1:n.1116C=
ENST00000647152.1:c.-94C=	ENSP00000495893.1:n.-94C=
ENST00000647209.1:c.*505C=	ENSP00000495558.1:n.*505C=
ENST00000647346.1:n.1656C=
ENST00000299427.10:c.636C=	ENSP00000299427.6:p.Thr212=
ENST00000428886.6:n.805C=
ENST00000436873.6:c.450+333C=	ENSP00000398136.2:n.450+333C=
ENST00000524788.1:n.336C=
ENST00000528571.5:c.*376C=	ENSP00000434647.1:n.*376C=
ENST00000528807.1:n.186C=
ENST00000533371.5:c.-94C=	ENSP00000437066.1:n.-94C=
ENST00000534644.5:n.621C=
ENST00000611494.4:c.636C=	ENSP00000484546.1:p.Thr212=
NM_000391.3:c.636C=	NP_000382.3:p.Thr212=
NM_000391.4:c.636C= MANE Select	NP_000382.3:p.Thr212=