Canonical Allele Identifier: CA379472143

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635879C>A (hg19) ; chr11:g.6614648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614648C>A , CM000673.2:g.6614648C>A	GRCh38
NC_000011.9:g.6635879C>A , CM000673.1:g.6635879C>A	GRCh37
NC_000011.8:g.6592455C>A	NCBI36
NG_008653.1:g.9814G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1476G>T	ENSP00000507321.1:p.Glu492Asp
ENST00000299427.12:c.1590G>T MANE Select	ENSP00000299427.6:p.Glu530Asp
ENST00000524611.2:n.629G>T
ENST00000524924.2:n.710G>T
ENST00000533371.6:c.861G>T	ENSP00000437066.1:p.Glu287Asp
ENST00000642892.1:c.861G>T	ENSP00000494165.1:p.Glu287Asp
ENST00000643342.1:c.663G>T
ENST00000643439.1:c.*1330G>T	ENSP00000495849.1:n.*1330G>T
ENST00000643479.1:n.1776G>T
ENST00000643516.1:c.1099G>T
ENST00000644218.1:c.1401G>T	ENSP00000493574.1:p.Glu467Asp
ENST00000644683.1:c.*1043G>T	ENSP00000494085.1:n.*1043G>T
ENST00000644810.1:c.1311G>T	ENSP00000495895.1:p.Glu437Asp
ENST00000644831.1:n.1766G>T
ENST00000644933.1:c.*456G>T	ENSP00000496133.1:n.*456G>T
ENST00000645285.1:c.*456G>T	ENSP00000495058.1:n.*456G>T
ENST00000645331.1:n.2795G>T
ENST00000645620.1:c.861G>T	ENSP00000493657.1:p.Glu287Asp
ENST00000646691.1:n.1477G>T
ENST00000646777.1:n.1923G>T
ENST00000647016.1:n.2070G>T
ENST00000647152.1:c.861G>T	ENSP00000495893.1:p.Glu287Asp
ENST00000647209.1:c.*1459G>T	ENSP00000495558.1:n.*1459G>T
ENST00000647346.1:n.2610G>T
ENST00000299427.10:c.1590G>T	ENSP00000299427.6:p.Glu530Asp
ENST00000524611.1:n.468G>T
ENST00000533371.5:c.861G>T	ENSP00000437066.1:p.Glu287Asp
ENST00000611494.4:c.1590G>T	ENSP00000484546.1:p.Glu530Asp
NM_000391.3:c.1590G>T	NP_000382.3:p.Glu530Asp
NM_000391.4:c.1590G>T MANE Select	NP_000382.3:p.Glu530Asp