Canonical Allele Identifier: CA379471981

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1151286
• ClinVar RCV Id: RCV001492140
• dbSNP Id: rs2134590322
• MyVariant Identifiers: chr11:g.6635807T>C (hg19) ; chr11:g.6614576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614576T>C , CM000673.2:g.6614576T>C	GRCh38
NC_000011.9:g.6635807T>C , CM000673.1:g.6635807T>C	GRCh37
NC_000011.8:g.6592383T>C	NCBI36
NG_008653.1:g.9886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1548A>G	ENSP00000507321.1:p.Pro516=
ENST00000299427.12:c.1662A>G MANE Select	ENSP00000299427.6:p.Pro554=
ENST00000524611.2:n.701A>G
ENST00000533371.6:c.933A>G	ENSP00000437066.1:p.Pro311=
ENST00000642892.1:c.933A>G	ENSP00000494165.1:p.Pro311=
ENST00000643342.1:c.735A>G
ENST00000643439.1:c.*1402A>G	ENSP00000495849.1:n.*1402A>G
ENST00000643479.1:n.1848A>G
ENST00000643516.1:c.1171A>G
ENST00000644218.1:c.1473A>G	ENSP00000493574.1:p.Pro491=
ENST00000644683.1:c.*1115A>G	ENSP00000494085.1:n.*1115A>G
ENST00000644810.1:c.1383A>G	ENSP00000495895.1:p.Pro461=
ENST00000644831.1:n.1838A>G
ENST00000644933.1:c.*528A>G	ENSP00000496133.1:n.*528A>G
ENST00000645285.1:c.*528A>G	ENSP00000495058.1:n.*528A>G
ENST00000645331.1:n.2867A>G
ENST00000645620.1:c.933A>G	ENSP00000493657.1:p.Pro311=
ENST00000646691.1:n.1549A>G
ENST00000646777.1:n.1995A>G
ENST00000647016.1:n.2142A>G
ENST00000647152.1:c.933A>G	ENSP00000495893.1:p.Pro311=
ENST00000647209.1:c.*1531A>G	ENSP00000495558.1:n.*1531A>G
ENST00000647346.1:n.2682A>G
ENST00000299427.10:c.1662A>G	ENSP00000299427.6:p.Pro554=
ENST00000533371.5:c.933A>G	ENSP00000437066.1:p.Pro311=
ENST00000611494.4:c.1661A>G	ENSP00000484546.1:p.Gln554Arg
NM_000391.3:c.1662A>G	NP_000382.3:p.Pro554=
NM_000391.4:c.1662A>G MANE Select	NP_000382.3:p.Pro554=