Canonical Allele Identifier: CA379474739

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2533426
• ClinVar RCV Id: RCV003286456
• MyVariant Identifiers: chr11:g.6637732G>C (hg19) ; chr11:g.6616501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616501G>C , CM000673.2:g.6616501G>C	GRCh38
NC_000011.9:g.6637732G>C , CM000673.1:g.6637732G>C	GRCh37
NC_000011.8:g.6594308G>C	NCBI36
NG_008653.1:g.7961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.775C>G	ENSP00000507321.1:p.Arg259Gly
ENST00000299427.12:c.889C>G MANE Select	ENSP00000299427.6:p.Arg297Gly
ENST00000436873.7:c.313-427C>G
ENST00000530040.2:n.482C>G
ENST00000533371.6:c.160C>G	ENSP00000437066.1:p.Arg54Gly
ENST00000642892.1:c.160C>G	ENSP00000494165.1:p.Arg54Gly
ENST00000643439.1:c.*629C>G	ENSP00000495849.1:n.*629C>G
ENST00000643479.1:n.1075C>G
ENST00000643516.1:c.398C>G
ENST00000644218.1:c.886+160C>G	ENSP00000493574.1:n.886+160C>G
ENST00000644683.1:c.*342C>G	ENSP00000494085.1:n.*342C>G
ENST00000644810.1:c.610C>G	ENSP00000495895.1:p.Arg204Gly
ENST00000644831.1:n.1065C>G
ENST00000644933.1:c.160C>G	ENSP00000496133.1:p.Arg54Gly
ENST00000645285.1:c.157+160C>G	ENSP00000495058.1:n.157+160C>G
ENST00000645331.1:n.1412C>G
ENST00000645620.1:c.160C>G	ENSP00000493657.1:p.Arg54Gly
ENST00000646777.1:n.1222C>G
ENST00000647016.1:n.1369C>G
ENST00000647152.1:c.160C>G	ENSP00000495893.1:p.Arg54Gly
ENST00000647209.1:c.*758C>G	ENSP00000495558.1:n.*758C>G
ENST00000647346.1:n.1909C>G
ENST00000299427.10:c.889C>G	ENSP00000299427.6:p.Arg297Gly
ENST00000436873.6:c.453C>G	ENSP00000398136.2:p.Ala151=
ENST00000533371.5:c.160C>G	ENSP00000437066.1:p.Arg54Gly
ENST00000611494.4:c.889C>G	ENSP00000484546.1:p.Arg297Gly
NM_000391.3:c.889C>G	NP_000382.3:p.Arg297Gly
NM_000391.4:c.889C>G MANE Select	NP_000382.3:p.Arg297Gly