Canonical Allele Identifier: CA379474850

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637906A>C (hg19) ; chr11:g.6616675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616675A>C , CM000673.2:g.6616675A>C	GRCh38
NC_000011.9:g.6637906A>C , CM000673.1:g.6637906A>C	GRCh37
NC_000011.8:g.6594482A>C	NCBI36
NG_008653.1:g.7787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.758T>G	ENSP00000507321.1:p.Val253Gly
ENST00000299427.12:c.872T>G MANE Select	ENSP00000299427.6:p.Val291Gly
ENST00000436873.7:c.313-601T>G
ENST00000524788.2:n.2031T>G
ENST00000524903.2:n.2147T>G
ENST00000528807.2:n.528T>G
ENST00000530040.2:n.480-172T>G
ENST00000533371.6:c.143T>G	ENSP00000437066.1:p.Val48Gly
ENST00000642892.1:c.143T>G	ENSP00000494165.1:p.Val48Gly
ENST00000643439.1:c.*612T>G	ENSP00000495849.1:n.*612T>G
ENST00000643479.1:n.901T>G
ENST00000643516.1:c.396-172T>G
ENST00000644151.1:n.2311T>G
ENST00000644218.1:c.872T>G	ENSP00000493574.1:p.Val291Gly
ENST00000644683.1:c.*325T>G	ENSP00000494085.1:n.*325T>G
ENST00000644810.1:c.593T>G	ENSP00000495895.1:p.Val198Gly
ENST00000644831.1:n.1048T>G
ENST00000644933.1:c.143T>G	ENSP00000496133.1:p.Val48Gly
ENST00000645020.1:n.2162T>G
ENST00000645285.1:c.143T>G	ENSP00000495058.1:p.Val48Gly
ENST00000645331.1:n.1238T>G
ENST00000645620.1:c.143T>G	ENSP00000493657.1:p.Val48Gly
ENST00000646777.1:n.1048T>G
ENST00000647016.1:n.1352T>G
ENST00000647152.1:c.143T>G	ENSP00000495893.1:p.Val48Gly
ENST00000647209.1:c.*741T>G	ENSP00000495558.1:n.*741T>G
ENST00000647346.1:n.1892T>G
ENST00000299427.10:c.872T>G	ENSP00000299427.6:p.Val291Gly
ENST00000436873.6:c.451-172T>G	ENSP00000398136.2:n.451-172T>G
ENST00000528807.1:n.422T>G
ENST00000533371.5:c.143T>G	ENSP00000437066.1:p.Val48Gly
ENST00000611494.4:c.872T>G	ENSP00000484546.1:p.Val291Gly
NM_000391.3:c.872T>G	NP_000382.3:p.Val291Gly
NM_000391.4:c.872T>G MANE Select	NP_000382.3:p.Val291Gly