Canonical Allele Identifier: CA379473128

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1705669
• ClinVar RCV Id: RCV002283983
• MyVariant Identifiers: chr11:g.6636771C>G (hg19) ; chr11:g.6615540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615540C>G , CM000673.2:g.6615540C>G	GRCh38
NC_000011.9:g.6636771C>G , CM000673.1:g.6636771C>G	GRCh37
NC_000011.8:g.6593347C>G	NCBI36
NG_008653.1:g.8922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1054G>C	ENSP00000507321.1:p.Gly352Arg
ENST00000299427.12:c.1168G>C MANE Select	ENSP00000299427.6:p.Gly390Arg
ENST00000436873.7:c.405G>C
ENST00000524924.2:n.288G>C
ENST00000533371.6:c.439G>C	ENSP00000437066.1:p.Gly147Arg
ENST00000642892.1:c.439G>C	ENSP00000494165.1:p.Gly147Arg
ENST00000643342.1:c.241G>C
ENST00000643439.1:c.*908G>C	ENSP00000495849.1:n.*908G>C
ENST00000643479.1:n.1354G>C
ENST00000643516.1:c.677G>C
ENST00000644218.1:c.979G>C	ENSP00000493574.1:p.Gly327Arg
ENST00000644683.1:c.*621G>C	ENSP00000494085.1:n.*621G>C
ENST00000644810.1:c.889G>C	ENSP00000495895.1:p.Gly297Arg
ENST00000644831.1:n.1344G>C
ENST00000644933.1:c.*34G>C	ENSP00000496133.1:n.*34G>C
ENST00000645285.1:c.*34G>C	ENSP00000495058.1:n.*34G>C
ENST00000645331.1:n.2373G>C
ENST00000645620.1:c.439G>C	ENSP00000493657.1:p.Gly147Arg
ENST00000646691.1:n.943G>C
ENST00000646777.1:n.1501G>C
ENST00000647016.1:n.1648G>C
ENST00000647152.1:c.439G>C	ENSP00000495893.1:p.Gly147Arg
ENST00000647209.1:c.*1037G>C	ENSP00000495558.1:n.*1037G>C
ENST00000647346.1:n.2188G>C
ENST00000299427.10:c.1168G>C	ENSP00000299427.6:p.Gly390Arg
ENST00000524924.1:n.123G>C
ENST00000532191.1:n.221G>C
ENST00000533371.5:c.439G>C	ENSP00000437066.1:p.Gly147Arg
ENST00000611494.4:c.1168G>C	ENSP00000484546.1:p.Gly390Arg
NM_000391.3:c.1168G>C	NP_000382.3:p.Gly390Arg
NM_000391.4:c.1168G>C MANE Select	NP_000382.3:p.Gly390Arg