Canonical Allele Identifier: CA379472771

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636528G>C (hg19) ; chr11:g.6615297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615297G>C , CM000673.2:g.6615297G>C	GRCh38
NC_000011.9:g.6636528G>C , CM000673.1:g.6636528G>C	GRCh37
NC_000011.8:g.6593104G>C	NCBI36
NG_008653.1:g.9165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1185C>G	ENSP00000507321.1:p.Ser395Arg
ENST00000299427.12:c.1299C>G MANE Select	ENSP00000299427.6:p.Ser433Arg
ENST00000524611.2:n.159C>G
ENST00000524924.2:n.419C>G
ENST00000533371.6:c.570C>G	ENSP00000437066.1:p.Ser190Arg
ENST00000642892.1:c.570C>G	ENSP00000494165.1:p.Ser190Arg
ENST00000643342.1:c.372C>G
ENST00000643439.1:c.*1039C>G	ENSP00000495849.1:n.*1039C>G
ENST00000643479.1:n.1485C>G
ENST00000643516.1:c.808C>G
ENST00000644218.1:c.1110C>G	ENSP00000493574.1:p.Ser370Arg
ENST00000644683.1:c.*752C>G	ENSP00000494085.1:n.*752C>G
ENST00000644810.1:c.1020C>G	ENSP00000495895.1:p.Ser340Arg
ENST00000644831.1:n.1475C>G
ENST00000644933.1:c.*165C>G	ENSP00000496133.1:n.*165C>G
ENST00000645285.1:c.*165C>G	ENSP00000495058.1:n.*165C>G
ENST00000645331.1:n.2504C>G
ENST00000645620.1:c.570C>G	ENSP00000493657.1:p.Ser190Arg
ENST00000646691.1:n.1186C>G
ENST00000646777.1:n.1632C>G
ENST00000647016.1:n.1779C>G
ENST00000647152.1:c.570C>G	ENSP00000495893.1:p.Ser190Arg
ENST00000647209.1:c.*1168C>G	ENSP00000495558.1:n.*1168C>G
ENST00000647346.1:n.2319C>G
ENST00000299427.10:c.1299C>G	ENSP00000299427.6:p.Ser433Arg
ENST00000524611.1:n.177C>G
ENST00000524924.1:n.254C>G
ENST00000532191.1:n.352C>G
ENST00000533371.5:c.570C>G	ENSP00000437066.1:p.Ser190Arg
ENST00000611494.4:c.1299C>G	ENSP00000484546.1:p.Ser433Arg
NM_000391.3:c.1299C>G	NP_000382.3:p.Ser433Arg
NM_000391.4:c.1299C>G MANE Select	NP_000382.3:p.Ser433Arg