Canonical Allele Identifier: CA1950232589

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614574G= , CM000673.2:g.6614574G=	GRCh38
NC_000011.9:g.6635805G= , CM000673.1:g.6635805G=	GRCh37
NC_000011.8:g.6592381G=	NCBI36
NG_008653.1:g.9888C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1550C=	ENSP00000507321.1:p.Ala517=
ENST00000299427.12:c.1664C= MANE Select	ENSP00000299427.6:p.Ala555=
ENST00000524611.2:n.703C=
ENST00000533371.6:c.935C=	ENSP00000437066.1:p.Ala312=
ENST00000642892.1:c.935C=	ENSP00000494165.1:p.Ala312=
ENST00000643342.1:c.737C=
ENST00000643439.1:c.*1404C=	ENSP00000495849.1:n.*1404C=
ENST00000643479.1:n.1850C=
ENST00000643516.1:c.1173C=
ENST00000644218.1:c.1475C=	ENSP00000493574.1:p.Ala492=
ENST00000644683.1:c.*1117C=	ENSP00000494085.1:n.*1117C=
ENST00000644810.1:c.1385C=	ENSP00000495895.1:p.Ala462=
ENST00000644831.1:n.1840C=
ENST00000644933.1:c.*530C=	ENSP00000496133.1:n.*530C=
ENST00000645285.1:c.*530C=	ENSP00000495058.1:n.*530C=
ENST00000645331.1:n.2869C=
ENST00000645620.1:c.935C=	ENSP00000493657.1:p.Ala312=
ENST00000646691.1:n.1551C=
ENST00000646777.1:n.1997C=
ENST00000647016.1:n.2144C=
ENST00000647152.1:c.935C=	ENSP00000495893.1:p.Ala312=
ENST00000647209.1:c.*1533C=	ENSP00000495558.1:n.*1533C=
ENST00000647346.1:n.2684C=
ENST00000299427.10:c.1664C=	ENSP00000299427.6:p.Ala555=
ENST00000533371.5:c.935C=	ENSP00000437066.1:p.Ala312=
ENST00000611494.4:c.1663C=	ENSP00000484546.1:p.Leu555=
NM_000391.3:c.1664C=	NP_000382.3:p.Ala555=
NM_000391.4:c.1664C= MANE Select	NP_000382.3:p.Ala555=