Canonical Allele Identifier: CA1950234183

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615297G= , CM000673.2:g.6615297G=	GRCh38
NC_000011.9:g.6636528G= , CM000673.1:g.6636528G=	GRCh37
NC_000011.8:g.6593104G=	NCBI36
NG_008653.1:g.9165C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1185C=	ENSP00000507321.1:p.Ser395=
ENST00000299427.12:c.1299C= MANE Select	ENSP00000299427.6:p.Ser433=
ENST00000524611.2:n.159C=
ENST00000524924.2:n.419C=
ENST00000533371.6:c.570C=	ENSP00000437066.1:p.Ser190=
ENST00000642892.1:c.570C=	ENSP00000494165.1:p.Ser190=
ENST00000643342.1:c.372C=
ENST00000643439.1:c.*1039C=	ENSP00000495849.1:n.*1039C=
ENST00000643479.1:n.1485C=
ENST00000643516.1:c.808C=
ENST00000644218.1:c.1110C=	ENSP00000493574.1:p.Ser370=
ENST00000644683.1:c.*752C=	ENSP00000494085.1:n.*752C=
ENST00000644810.1:c.1020C=	ENSP00000495895.1:p.Ser340=
ENST00000644831.1:n.1475C=
ENST00000644933.1:c.*165C=	ENSP00000496133.1:n.*165C=
ENST00000645285.1:c.*165C=	ENSP00000495058.1:n.*165C=
ENST00000645331.1:n.2504C=
ENST00000645620.1:c.570C=	ENSP00000493657.1:p.Ser190=
ENST00000646691.1:n.1186C=
ENST00000646777.1:n.1632C=
ENST00000647016.1:n.1779C=
ENST00000647152.1:c.570C=	ENSP00000495893.1:p.Ser190=
ENST00000647209.1:c.*1168C=	ENSP00000495558.1:n.*1168C=
ENST00000647346.1:n.2319C=
ENST00000299427.10:c.1299C=	ENSP00000299427.6:p.Ser433=
ENST00000524611.1:n.177C=
ENST00000524924.1:n.254C=
ENST00000532191.1:n.352C=
ENST00000533371.5:c.570C=	ENSP00000437066.1:p.Ser190=
ENST00000611494.4:c.1299C=	ENSP00000484546.1:p.Ser433=
NM_000391.3:c.1299C=	NP_000382.3:p.Ser433=
NM_000391.4:c.1299C= MANE Select	NP_000382.3:p.Ser433=