Canonical Allele Identifier: CA379472048

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614604-A-T
• MyVariant Identifiers: chr11:g.6635835A>T (hg19) ; chr11:g.6614604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614604A>T , CM000673.2:g.6614604A>T	GRCh38
NC_000011.9:g.6635835A>T , CM000673.1:g.6635835A>T	GRCh37
NC_000011.8:g.6592411A>T	NCBI36
NG_008653.1:g.9858T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1520T>A	ENSP00000507321.1:p.Val507Glu
ENST00000299427.12:c.1634T>A MANE Select	ENSP00000299427.6:p.Val545Glu
ENST00000524611.2:n.673T>A
ENST00000524924.2:n.754T>A
ENST00000533371.6:c.905T>A	ENSP00000437066.1:p.Val302Glu
ENST00000642892.1:c.905T>A	ENSP00000494165.1:p.Val302Glu
ENST00000643342.1:c.707T>A
ENST00000643439.1:c.*1374T>A	ENSP00000495849.1:n.*1374T>A
ENST00000643479.1:n.1820T>A
ENST00000643516.1:c.1143T>A
ENST00000644218.1:c.1445T>A	ENSP00000493574.1:p.Val482Glu
ENST00000644683.1:c.*1087T>A	ENSP00000494085.1:n.*1087T>A
ENST00000644810.1:c.1355T>A	ENSP00000495895.1:p.Val452Glu
ENST00000644831.1:n.1810T>A
ENST00000644933.1:c.*500T>A	ENSP00000496133.1:n.*500T>A
ENST00000645285.1:c.*500T>A	ENSP00000495058.1:n.*500T>A
ENST00000645331.1:n.2839T>A
ENST00000645620.1:c.905T>A	ENSP00000493657.1:p.Val302Glu
ENST00000646691.1:n.1521T>A
ENST00000646777.1:n.1967T>A
ENST00000647016.1:n.2114T>A
ENST00000647152.1:c.905T>A	ENSP00000495893.1:p.Val302Glu
ENST00000647209.1:c.*1503T>A	ENSP00000495558.1:n.*1503T>A
ENST00000647346.1:n.2654T>A
ENST00000299427.10:c.1634T>A	ENSP00000299427.6:p.Val545Glu
ENST00000533371.5:c.905T>A	ENSP00000437066.1:p.Val302Glu
ENST00000611494.4:c.1634T>A	ENSP00000484546.1:p.Val545Glu
NM_000391.3:c.1634T>A	NP_000382.3:p.Val545Glu
NM_000391.4:c.1634T>A MANE Select	NP_000382.3:p.Val545Glu