Canonical Allele Identifier: CA1950234590

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615461A= , CM000673.2:g.6615461A=	GRCh38
NC_000011.9:g.6636692A= , CM000673.1:g.6636692A=	GRCh37
NC_000011.8:g.6593268A=	NCBI36
NG_008653.1:g.9001T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1133T=	ENSP00000507321.1:p.Phe378=
ENST00000299427.12:c.1247T= MANE Select	ENSP00000299427.6:p.Phe416=
ENST00000436873.7:c.484T=
ENST00000524924.2:n.367T=
ENST00000533371.6:c.518T=	ENSP00000437066.1:p.Phe173=
ENST00000642892.1:c.518T=	ENSP00000494165.1:p.Phe173=
ENST00000643342.1:c.320T=
ENST00000643439.1:c.*987T=	ENSP00000495849.1:n.*987T=
ENST00000643479.1:n.1433T=
ENST00000643516.1:c.756T=
ENST00000644218.1:c.1058T=	ENSP00000493574.1:p.Phe353=
ENST00000644683.1:c.*700T=	ENSP00000494085.1:n.*700T=
ENST00000644810.1:c.968T=	ENSP00000495895.1:p.Phe323=
ENST00000644831.1:n.1423T=
ENST00000644933.1:c.*113T=	ENSP00000496133.1:n.*113T=
ENST00000645285.1:c.*113T=	ENSP00000495058.1:n.*113T=
ENST00000645331.1:n.2452T=
ENST00000645620.1:c.518T=	ENSP00000493657.1:p.Phe173=
ENST00000646691.1:n.1022T=
ENST00000646777.1:n.1580T=
ENST00000647016.1:n.1727T=
ENST00000647152.1:c.518T=	ENSP00000495893.1:p.Phe173=
ENST00000647209.1:c.*1116T=	ENSP00000495558.1:n.*1116T=
ENST00000647346.1:n.2267T=
ENST00000299427.10:c.1247T=	ENSP00000299427.6:p.Phe416=
ENST00000524611.1:n.13T=
ENST00000524924.1:n.202T=
ENST00000532191.1:n.300T=
ENST00000533371.5:c.518T=	ENSP00000437066.1:p.Phe173=
ENST00000611494.4:c.1247T=	ENSP00000484546.1:p.Phe416=
NM_000391.3:c.1247T=	NP_000382.3:p.Phe416=
NM_000391.4:c.1247T= MANE Select	NP_000382.3:p.Phe416=