Canonical Allele Identifier: CA351534

Gene: TPP1

Linked Data

• ClinVar Variation Id: 221282
• ClinVar RCV Id: RCV000207147
• dbSNP Id: rs869025274
• MyVariant Identifiers: chr11:g.6638584C>G (hg19) ; chr11:g.6617353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617353C>G , CM000673.2:g.6617353C>G	GRCh38
NC_000011.9:g.6638584C>G , CM000673.1:g.6638584C>G	GRCh37
NC_000011.8:g.6595160C>G	NCBI36
NG_008653.1:g.7109G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.342G>C	ENSP00000507321.1:p.Arg114Ser
ENST00000299427.12:c.456G>C MANE Select	ENSP00000299427.6:p.Arg152Ser
ENST00000428886.7:n.544G>C
ENST00000436873.7:c.260G>C
ENST00000524788.2:n.1468G>C
ENST00000524903.2:n.1584G>C
ENST00000528571.6:c.*196G>C	ENSP00000434647.1:n.*196G>C
ENST00000528807.2:n.112G>C
ENST00000530040.2:n.479+6G>C
ENST00000533371.6:c.-274G>C	ENSP00000437066.1:n.-274G>C
ENST00000534644.6:n.456+1G>C
ENST00000642892.1:c.-222+1G>C	ENSP00000494165.1:n.-222+1G>C
ENST00000643439.1:c.*196G>C	ENSP00000495849.1:n.*196G>C
ENST00000643479.1:n.485G>C
ENST00000643516.1:c.343G>C
ENST00000644151.1:n.1748G>C
ENST00000644218.1:c.456G>C	ENSP00000493574.1:p.Arg152Ser
ENST00000644683.1:c.450+6G>C	ENSP00000494085.1:n.450+6G>C
ENST00000644810.1:c.230-200G>C	ENSP00000495895.1:n.230-200G>C
ENST00000644831.1:n.485G>C
ENST00000644933.1:c.-274G>C	ENSP00000496133.1:n.-274G>C
ENST00000645020.1:n.1484G>C
ENST00000645285.1:c.-274G>C	ENSP00000495058.1:n.-274G>C
ENST00000645331.1:n.675G>C
ENST00000645620.1:c.-222+6G>C	ENSP00000493657.1:n.-222+6G>C
ENST00000646777.1:n.485G>C
ENST00000647016.1:n.789G>C
ENST00000647152.1:c.-274G>C	ENSP00000495893.1:n.-274G>C
ENST00000647209.1:c.*325G>C	ENSP00000495558.1:n.*325G>C
ENST00000647346.1:n.1476G>C
ENST00000299427.10:c.456G>C	ENSP00000299427.6:p.Arg152Ser
ENST00000428886.6:n.478G>C
ENST00000436873.6:c.450+6G>C	ENSP00000398136.2:n.450+6G>C
ENST00000524788.1:n.9G>C
ENST00000528571.5:c.*196G>C	ENSP00000434647.1:n.*196G>C
ENST00000533371.5:c.-274G>C	ENSP00000437066.1:n.-274G>C
ENST00000534644.5:n.441G>C
ENST00000611494.4:c.456G>C	ENSP00000484546.1:p.Arg152Ser
NM_000391.3:c.456G>C	NP_000382.3:p.Arg152Ser
NM_000391.4:c.456G>C MANE Select	NP_000382.3:p.Arg152Ser