Canonical Allele Identifier: CA1950232595

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614575C= , CM000673.2:g.6614575C=	GRCh38
NC_000011.9:g.6635806C= , CM000673.1:g.6635806C=	GRCh37
NC_000011.8:g.6592382C=	NCBI36
NG_008653.1:g.9887G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1549G=	ENSP00000507321.1:p.Ala517=
ENST00000299427.12:c.1663G= MANE Select	ENSP00000299427.6:p.Ala555=
ENST00000524611.2:n.702G=
ENST00000533371.6:c.934G=	ENSP00000437066.1:p.Ala312=
ENST00000642892.1:c.934G=	ENSP00000494165.1:p.Ala312=
ENST00000643342.1:c.736G=
ENST00000643439.1:c.*1403G=	ENSP00000495849.1:n.*1403G=
ENST00000643479.1:n.1849G=
ENST00000643516.1:c.1172G=
ENST00000644218.1:c.1474G=	ENSP00000493574.1:p.Ala492=
ENST00000644683.1:c.*1116G=	ENSP00000494085.1:n.*1116G=
ENST00000644810.1:c.1384G=	ENSP00000495895.1:p.Ala462=
ENST00000644831.1:n.1839G=
ENST00000644933.1:c.*529G=	ENSP00000496133.1:n.*529G=
ENST00000645285.1:c.*529G=	ENSP00000495058.1:n.*529G=
ENST00000645331.1:n.2868G=
ENST00000645620.1:c.934G=	ENSP00000493657.1:p.Ala312=
ENST00000646691.1:n.1550G=
ENST00000646777.1:n.1996G=
ENST00000647016.1:n.2143G=
ENST00000647152.1:c.934G=	ENSP00000495893.1:p.Ala312=
ENST00000647209.1:c.*1532G=	ENSP00000495558.1:n.*1532G=
ENST00000647346.1:n.2683G=
ENST00000299427.10:c.1663G=	ENSP00000299427.6:p.Ala555=
ENST00000533371.5:c.934G=	ENSP00000437066.1:p.Ala312=
ENST00000611494.4:c.1662G=	ENSP00000484546.1:p.Gln554=
NM_000391.3:c.1663G=	NP_000382.3:p.Ala555=
NM_000391.4:c.1663G= MANE Select	NP_000382.3:p.Ala555=