Canonical Allele Identifier: CA16041513

Gene: TPP1

Linked Data

• ClinVar Variation Id: 370180
• ClinVar RCV Id: RCV001378362
• dbSNP Id: rs113019349
• MyVariant Identifiers: chr11:g.6637235C>T (hg19) ; chr11:g.6616004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616004C>T , CM000673.2:g.6616004C>T	GRCh38
NC_000011.9:g.6637235C>T , CM000673.1:g.6637235C>T	GRCh37
NC_000011.8:g.6593811C>T	NCBI36
NG_008653.1:g.8458G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1031+1G>A	ENSP00000507321.1:n.1031+1G>A
ENST00000299427.12:c.1145+1G>A MANE Select	ENSP00000299427.6:n.1145+1G>A
ENST00000436873.7:c.382+1G>A
ENST00000524924.2:n.265+1G>A
ENST00000533371.6:c.416+1G>A	ENSP00000437066.1:n.416+1G>A
ENST00000642892.1:c.416+1G>A	ENSP00000494165.1:n.416+1G>A
ENST00000643342.1:c.235+1G>A
ENST00000643439.1:c.*885+1G>A	ENSP00000495849.1:n.*885+1G>A
ENST00000643479.1:n.1331+1G>A
ENST00000643516.1:c.654+1G>A
ENST00000644218.1:c.956+1G>A	ENSP00000493574.1:n.956+1G>A
ENST00000644683.1:c.*598+1G>A	ENSP00000494085.1:n.*598+1G>A
ENST00000644810.1:c.866+1G>A	ENSP00000495895.1:n.866+1G>A
ENST00000644831.1:n.1321+1G>A
ENST00000644933.1:c.416+1G>A	ENSP00000496133.1:n.416+1G>A
ENST00000645285.1:c.227+1G>A	ENSP00000495058.1:n.227+1G>A
ENST00000645331.1:n.1909G>A
ENST00000645620.1:c.416+1G>A	ENSP00000493657.1:n.416+1G>A
ENST00000646691.1:n.479G>A
ENST00000646777.1:n.1478+1G>A
ENST00000647016.1:n.1625+1G>A
ENST00000647152.1:c.416+1G>A	ENSP00000495893.1:n.416+1G>A
ENST00000647209.1:c.*1014+1G>A	ENSP00000495558.1:n.*1014+1G>A
ENST00000647346.1:n.2165+1G>A
ENST00000299427.10:c.1145+1G>A	ENSP00000299427.6:n.1145+1G>A
ENST00000524924.1:n.100+1G>A
ENST00000533371.5:c.416+1G>A	ENSP00000437066.1:n.416+1G>A
ENST00000611494.4:c.1145+1G>A	ENSP00000484546.1:n.1145+1G>A
NM_000391.3:c.1145+1G>A	NP_000382.3:n.1145+1G>A
NM_000391.4:c.1145+1G>A MANE Select	NP_000382.3:n.1145+1G>A