Canonical Allele Identifier: CA472922652

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637905G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616674G>C , CM000673.2:g.6616674G>C	GRCh38
NC_000011.9:g.6637905G>C , CM000673.1:g.6637905G>C	GRCh37
NC_000011.8:g.6594481G>C	NCBI36
NG_008653.1:g.7788C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.759C>G	ENSP00000507321.1:p.Val253=
ENST00000299427.12:c.873C>G MANE Select	ENSP00000299427.6:p.Val291=
ENST00000436873.7:c.313-600C>G
ENST00000524788.2:n.2032C>G
ENST00000524903.2:n.2148C>G
ENST00000528807.2:n.529C>G
ENST00000530040.2:n.480-171C>G
ENST00000533371.6:c.144C>G	ENSP00000437066.1:p.Val48=
ENST00000642892.1:c.144C>G	ENSP00000494165.1:p.Val48=
ENST00000643439.1:c.*613C>G	ENSP00000495849.1:n.*613C>G
ENST00000643479.1:n.902C>G
ENST00000643516.1:c.396-171C>G
ENST00000644151.1:n.2312C>G
ENST00000644218.1:c.873C>G	ENSP00000493574.1:p.Val291=
ENST00000644683.1:c.*326C>G	ENSP00000494085.1:n.*326C>G
ENST00000644810.1:c.594C>G	ENSP00000495895.1:p.Val198=
ENST00000644831.1:n.1049C>G
ENST00000644933.1:c.144C>G	ENSP00000496133.1:p.Val48=
ENST00000645020.1:n.2163C>G
ENST00000645285.1:c.144C>G	ENSP00000495058.1:p.Val48=
ENST00000645331.1:n.1239C>G
ENST00000645620.1:c.144C>G	ENSP00000493657.1:p.Val48=
ENST00000646777.1:n.1049C>G
ENST00000647016.1:n.1353C>G
ENST00000647152.1:c.144C>G	ENSP00000495893.1:p.Val48=
ENST00000647209.1:c.*742C>G	ENSP00000495558.1:n.*742C>G
ENST00000647346.1:n.1893C>G
ENST00000299427.10:c.873C>G	ENSP00000299427.6:p.Val291=
ENST00000436873.6:c.451-171C>G	ENSP00000398136.2:n.451-171C>G
ENST00000528807.1:n.423C>G
ENST00000533371.5:c.144C>G	ENSP00000437066.1:p.Val48=
ENST00000611494.4:c.873C>G	ENSP00000484546.1:p.Val291=
NM_000391.3:c.873C>G	NP_000382.3:p.Val291=
NM_000391.4:c.873C>G MANE Select	NP_000382.3:p.Val291=