Canonical Allele Identifier: CA379472526

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636413A>C (hg19) ; chr11:g.6615182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615182A>C , CM000673.2:g.6615182A>C	GRCh38
NC_000011.9:g.6636413A>C , CM000673.1:g.6636413A>C	GRCh37
NC_000011.8:g.6592989A>C	NCBI36
NG_008653.1:g.9280T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1300T>G	ENSP00000507321.1:p.Ser434Ala
ENST00000299427.12:c.1414T>G MANE Select	ENSP00000299427.6:p.Ser472Ala
ENST00000524611.2:n.274T>G
ENST00000524924.2:n.534T>G
ENST00000533371.6:c.685T>G	ENSP00000437066.1:p.Ser229Ala
ENST00000642892.1:c.685T>G	ENSP00000494165.1:p.Ser229Ala
ENST00000643342.1:c.487T>G
ENST00000643439.1:c.*1154T>G	ENSP00000495849.1:n.*1154T>G
ENST00000643479.1:n.1600T>G
ENST00000643516.1:c.923T>G
ENST00000644218.1:c.1225T>G	ENSP00000493574.1:p.Ser409Ala
ENST00000644683.1:c.*867T>G	ENSP00000494085.1:n.*867T>G
ENST00000644810.1:c.1135T>G	ENSP00000495895.1:p.Ser379Ala
ENST00000644831.1:n.1590T>G
ENST00000644933.1:c.*280T>G	ENSP00000496133.1:n.*280T>G
ENST00000645285.1:c.*280T>G	ENSP00000495058.1:n.*280T>G
ENST00000645331.1:n.2619T>G
ENST00000645620.1:c.685T>G	ENSP00000493657.1:p.Ser229Ala
ENST00000646691.1:n.1301T>G
ENST00000646777.1:n.1747T>G
ENST00000647016.1:n.1894T>G
ENST00000647152.1:c.685T>G	ENSP00000495893.1:p.Ser229Ala
ENST00000647209.1:c.*1283T>G	ENSP00000495558.1:n.*1283T>G
ENST00000647346.1:n.2434T>G
ENST00000299427.10:c.1414T>G	ENSP00000299427.6:p.Ser472Ala
ENST00000524611.1:n.292T>G
ENST00000533371.5:c.685T>G	ENSP00000437066.1:p.Ser229Ala
ENST00000611494.4:c.1414T>G	ENSP00000484546.1:p.Ser472Ala
NM_000391.3:c.1414T>G	NP_000382.3:p.Ser472Ala
NM_000391.4:c.1414T>G MANE Select	NP_000382.3:p.Ser472Ala