Canonical Allele Identifier: CA379472840

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636559T>G (hg19) ; chr11:g.6615328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615328T>G , CM000673.2:g.6615328T>G	GRCh38
NC_000011.9:g.6636559T>G , CM000673.1:g.6636559T>G	GRCh37
NC_000011.8:g.6593135T>G	NCBI36
NG_008653.1:g.9134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1154A>C	ENSP00000507321.1:p.Glu385Ala
ENST00000299427.12:c.1268A>C MANE Select	ENSP00000299427.6:p.Glu423Ala
ENST00000436873.7:c.505A>C
ENST00000524611.2:n.128A>C
ENST00000524924.2:n.388A>C
ENST00000533371.6:c.539A>C	ENSP00000437066.1:p.Glu180Ala
ENST00000642892.1:c.539A>C	ENSP00000494165.1:p.Glu180Ala
ENST00000643342.1:c.341A>C
ENST00000643439.1:c.*1008A>C	ENSP00000495849.1:n.*1008A>C
ENST00000643479.1:n.1454A>C
ENST00000643516.1:c.777A>C
ENST00000644218.1:c.1079A>C	ENSP00000493574.1:p.Glu360Ala
ENST00000644683.1:c.*721A>C	ENSP00000494085.1:n.*721A>C
ENST00000644810.1:c.989A>C	ENSP00000495895.1:p.Glu330Ala
ENST00000644831.1:n.1444A>C
ENST00000644933.1:c.*134A>C	ENSP00000496133.1:n.*134A>C
ENST00000645285.1:c.*134A>C	ENSP00000495058.1:n.*134A>C
ENST00000645331.1:n.2473A>C
ENST00000645620.1:c.539A>C	ENSP00000493657.1:p.Glu180Ala
ENST00000646691.1:n.1155A>C
ENST00000646777.1:n.1601A>C
ENST00000647016.1:n.1748A>C
ENST00000647152.1:c.539A>C	ENSP00000495893.1:p.Glu180Ala
ENST00000647209.1:c.*1137A>C	ENSP00000495558.1:n.*1137A>C
ENST00000647346.1:n.2288A>C
ENST00000299427.10:c.1268A>C	ENSP00000299427.6:p.Glu423Ala
ENST00000524611.1:n.146A>C
ENST00000524924.1:n.223A>C
ENST00000532191.1:n.321A>C
ENST00000533371.5:c.539A>C	ENSP00000437066.1:p.Glu180Ala
ENST00000611494.4:c.1268A>C	ENSP00000484546.1:p.Glu423Ala
NM_000391.3:c.1268A>C	NP_000382.3:p.Glu423Ala
NM_000391.4:c.1268A>C MANE Select	NP_000382.3:p.Glu423Ala