Canonical Allele Identifier: CA1950237195

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616709G= , CM000673.2:g.6616709G=	GRCh38
NC_000011.9:g.6637940G= , CM000673.1:g.6637940G=	GRCh37
NC_000011.8:g.6594516G=	NCBI36
NG_008653.1:g.7753C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.724C=	ENSP00000507321.1:p.Leu242=
ENST00000299427.12:c.838C= MANE Select	ENSP00000299427.6:p.Leu280=
ENST00000436873.7:c.312+592C=
ENST00000524788.2:n.1997C=
ENST00000524903.2:n.2113C=
ENST00000528807.2:n.494C=
ENST00000530040.2:n.480-206C=
ENST00000533371.6:c.109C=	ENSP00000437066.1:p.Leu37=
ENST00000642892.1:c.109C=	ENSP00000494165.1:p.Leu37=
ENST00000643439.1:c.*578C=	ENSP00000495849.1:n.*578C=
ENST00000643479.1:n.867C=
ENST00000643516.1:c.396-206C=
ENST00000644151.1:n.2277C=
ENST00000644218.1:c.838C=	ENSP00000493574.1:p.Leu280=
ENST00000644683.1:c.*291C=	ENSP00000494085.1:n.*291C=
ENST00000644810.1:c.559C=	ENSP00000495895.1:p.Leu187=
ENST00000644831.1:n.1014C=
ENST00000644933.1:c.109C=	ENSP00000496133.1:p.Leu37=
ENST00000645020.1:n.2128C=
ENST00000645285.1:c.109C=	ENSP00000495058.1:p.Leu37=
ENST00000645331.1:n.1204C=
ENST00000645620.1:c.109C=	ENSP00000493657.1:p.Leu37=
ENST00000646777.1:n.1014C=
ENST00000647016.1:n.1318C=
ENST00000647152.1:c.109C=	ENSP00000495893.1:p.Leu37=
ENST00000647209.1:c.*707C=	ENSP00000495558.1:n.*707C=
ENST00000647346.1:n.1858C=
ENST00000299427.10:c.838C=	ENSP00000299427.6:p.Leu280=
ENST00000436873.6:c.451-206C=	ENSP00000398136.2:n.451-206C=
ENST00000524788.1:n.538C=
ENST00000528807.1:n.388C=
ENST00000533371.5:c.109C=	ENSP00000437066.1:p.Leu37=
ENST00000611494.4:c.838C=	ENSP00000484546.1:p.Leu280=
NM_000391.3:c.838C=	NP_000382.3:p.Leu280=
NM_000391.4:c.838C= MANE Select	NP_000382.3:p.Leu280=