Canonical Allele Identifier: CA1950234763

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615545A= , CM000673.2:g.6615545A=	GRCh38
NC_000011.9:g.6636776A= , CM000673.1:g.6636776A=	GRCh37
NC_000011.8:g.6593352A=	NCBI36
NG_008653.1:g.8917T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1049T=	ENSP00000507321.1:p.Val350=
ENST00000299427.12:c.1163T= MANE Select	ENSP00000299427.6:p.Val388=
ENST00000436873.7:c.400T=
ENST00000524924.2:n.283T=
ENST00000533371.6:c.434T=	ENSP00000437066.1:p.Val145=
ENST00000642892.1:c.434T=	ENSP00000494165.1:p.Val145=
ENST00000643342.1:c.236T=
ENST00000643439.1:c.*903T=	ENSP00000495849.1:n.*903T=
ENST00000643479.1:n.1349T=
ENST00000643516.1:c.672T=
ENST00000644218.1:c.974T=	ENSP00000493574.1:p.Val325=
ENST00000644683.1:c.*616T=	ENSP00000494085.1:n.*616T=
ENST00000644810.1:c.884T=	ENSP00000495895.1:p.Val295=
ENST00000644831.1:n.1339T=
ENST00000644933.1:c.*29T=	ENSP00000496133.1:n.*29T=
ENST00000645285.1:c.*29T=	ENSP00000495058.1:n.*29T=
ENST00000645331.1:n.2368T=
ENST00000645620.1:c.434T=	ENSP00000493657.1:p.Val145=
ENST00000646691.1:n.938T=
ENST00000646777.1:n.1496T=
ENST00000647016.1:n.1643T=
ENST00000647152.1:c.434T=	ENSP00000495893.1:p.Val145=
ENST00000647209.1:c.*1032T=	ENSP00000495558.1:n.*1032T=
ENST00000647346.1:n.2183T=
ENST00000299427.10:c.1163T=	ENSP00000299427.6:p.Val388=
ENST00000524924.1:n.118T=
ENST00000532191.1:n.216T=
ENST00000533371.5:c.434T=	ENSP00000437066.1:p.Val145=
ENST00000611494.4:c.1163T=	ENSP00000484546.1:p.Val388=
NM_000391.3:c.1163T=	NP_000382.3:p.Val388=
NM_000391.4:c.1163T= MANE Select	NP_000382.3:p.Val388=