Canonical Allele Identifier: CA472769294

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635840A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614609A>G , CM000673.2:g.6614609A>G	GRCh38
NC_000011.9:g.6635840A>G , CM000673.1:g.6635840A>G	GRCh37
NC_000011.8:g.6592416A>G	NCBI36
NG_008653.1:g.9853T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1515T>C	ENSP00000507321.1:p.Asp505=
ENST00000299427.12:c.1629T>C MANE Select	ENSP00000299427.6:p.Asp543=
ENST00000524611.2:n.668T>C
ENST00000524924.2:n.749T>C
ENST00000533371.6:c.900T>C	ENSP00000437066.1:p.Asp300=
ENST00000642892.1:c.900T>C	ENSP00000494165.1:p.Asp300=
ENST00000643342.1:c.702T>C
ENST00000643439.1:c.*1369T>C	ENSP00000495849.1:n.*1369T>C
ENST00000643479.1:n.1815T>C
ENST00000643516.1:c.1138T>C
ENST00000644218.1:c.1440T>C	ENSP00000493574.1:p.Asp480=
ENST00000644683.1:c.*1082T>C	ENSP00000494085.1:n.*1082T>C
ENST00000644810.1:c.1350T>C	ENSP00000495895.1:p.Asp450=
ENST00000644831.1:n.1805T>C
ENST00000644933.1:c.*495T>C	ENSP00000496133.1:n.*495T>C
ENST00000645285.1:c.*495T>C	ENSP00000495058.1:n.*495T>C
ENST00000645331.1:n.2834T>C
ENST00000645620.1:c.900T>C	ENSP00000493657.1:p.Asp300=
ENST00000646691.1:n.1516T>C
ENST00000646777.1:n.1962T>C
ENST00000647016.1:n.2109T>C
ENST00000647152.1:c.900T>C	ENSP00000495893.1:p.Asp300=
ENST00000647209.1:c.*1498T>C	ENSP00000495558.1:n.*1498T>C
ENST00000647346.1:n.2649T>C
ENST00000299427.10:c.1629T>C	ENSP00000299427.6:p.Asp543=
ENST00000533371.5:c.900T>C	ENSP00000437066.1:p.Asp300=
ENST00000611494.4:c.1629T>C	ENSP00000484546.1:p.Asp543=
NM_000391.3:c.1629T>C	NP_000382.3:p.Asp543=
NM_000391.4:c.1629T>C MANE Select	NP_000382.3:p.Asp543=