Canonical Allele Identifier: CA291356

Gene: TPP1

Linked Data

• ClinVar Variation Id: 137701
• ClinVar RCV Id: RCV000125589 ; RCV000713859 ; RCV000625039 ; RCV002312568
• dbSNP Id: rs112812685
• ExAC: 11:6637264 G / C
• gnomAD v2: 11-6637264-G-C
• gnomAD v3: 11-6616033-G-C
• gnomAD v4: 11-6616033-G-C
• MyVariant Identifiers: chr11:g.6637264G>C (hg19) ; chr11:g.6616033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616033G>C , CM000673.2:g.6616033G>C	GRCh38
NC_000011.9:g.6637264G>C , CM000673.1:g.6637264G>C	GRCh37
NC_000011.8:g.6593840G>C	NCBI36
NG_008653.1:g.8429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1003C>G	ENSP00000507321.1:p.Gln335Glu
ENST00000299427.12:c.1117C>G MANE Select	ENSP00000299427.6:p.Gln373Glu
ENST00000436873.7:c.354C>G
ENST00000524924.2:n.237C>G
ENST00000533371.6:c.388C>G	ENSP00000437066.1:p.Gln130Glu
ENST00000642892.1:c.388C>G	ENSP00000494165.1:p.Gln130Glu
ENST00000643342.1:c.207C>G
ENST00000643439.1:c.*857C>G	ENSP00000495849.1:n.*857C>G
ENST00000643479.1:n.1303C>G
ENST00000643516.1:c.626C>G
ENST00000644218.1:c.928C>G	ENSP00000493574.1:p.Gln310Glu
ENST00000644683.1:c.*570C>G	ENSP00000494085.1:n.*570C>G
ENST00000644810.1:c.838C>G	ENSP00000495895.1:p.Gln280Glu
ENST00000644831.1:n.1293C>G
ENST00000644933.1:c.388C>G	ENSP00000496133.1:p.Gln130Glu
ENST00000645285.1:c.199C>G	ENSP00000495058.1:p.Gln67Glu
ENST00000645331.1:n.1880C>G
ENST00000645620.1:c.388C>G	ENSP00000493657.1:p.Gln130Glu
ENST00000646691.1:n.450C>G
ENST00000646777.1:n.1450C>G
ENST00000647016.1:n.1597C>G
ENST00000647152.1:c.388C>G	ENSP00000495893.1:p.Gln130Glu
ENST00000647209.1:c.*986C>G	ENSP00000495558.1:n.*986C>G
ENST00000647346.1:n.2137C>G
ENST00000299427.10:c.1117C>G	ENSP00000299427.6:p.Gln373Glu
ENST00000524924.1:n.72C>G
ENST00000533371.5:c.388C>G	ENSP00000437066.1:p.Gln130Glu
ENST00000611494.4:c.1117C>G	ENSP00000484546.1:p.Gln373Glu
NM_000391.3:c.1117C>G	NP_000382.3:p.Gln373Glu
NM_000391.4:c.1117C>G MANE Select	NP_000382.3:p.Gln373Glu