Canonical Allele Identifier: CA1950233867

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615180G= , CM000673.2:g.6615180G=	GRCh38
NC_000011.9:g.6636411G= , CM000673.1:g.6636411G=	GRCh37
NC_000011.8:g.6592987G=	NCBI36
NG_008653.1:g.9282C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1302C=	ENSP00000507321.1:p.Ser434=
ENST00000299427.12:c.1416C= MANE Select	ENSP00000299427.6:p.Ser472=
ENST00000524611.2:n.276C=
ENST00000524924.2:n.536C=
ENST00000533371.6:c.687C=	ENSP00000437066.1:p.Ser229=
ENST00000642892.1:c.687C=	ENSP00000494165.1:p.Ser229=
ENST00000643342.1:c.489C=
ENST00000643439.1:c.*1156C=	ENSP00000495849.1:n.*1156C=
ENST00000643479.1:n.1602C=
ENST00000643516.1:c.925C=
ENST00000644218.1:c.1227C=	ENSP00000493574.1:p.Ser409=
ENST00000644683.1:c.*869C=	ENSP00000494085.1:n.*869C=
ENST00000644810.1:c.1137C=	ENSP00000495895.1:p.Ser379=
ENST00000644831.1:n.1592C=
ENST00000644933.1:c.*282C=	ENSP00000496133.1:n.*282C=
ENST00000645285.1:c.*282C=	ENSP00000495058.1:n.*282C=
ENST00000645331.1:n.2621C=
ENST00000645620.1:c.687C=	ENSP00000493657.1:p.Ser229=
ENST00000646691.1:n.1303C=
ENST00000646777.1:n.1749C=
ENST00000647016.1:n.1896C=
ENST00000647152.1:c.687C=	ENSP00000495893.1:p.Ser229=
ENST00000647209.1:c.*1285C=	ENSP00000495558.1:n.*1285C=
ENST00000647346.1:n.2436C=
ENST00000299427.10:c.1416C=	ENSP00000299427.6:p.Ser472=
ENST00000524611.1:n.294C=
ENST00000533371.5:c.687C=	ENSP00000437066.1:p.Ser229=
ENST00000611494.4:c.1416C=	ENSP00000484546.1:p.Ser472=
NM_000391.3:c.1416C=	NP_000382.3:p.Ser472=
NM_000391.4:c.1416C= MANE Select	NP_000382.3:p.Ser472=