Canonical Allele Identifier: CA379472010

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635818G>C (hg19) ; chr11:g.6614587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614587G>C , CM000673.2:g.6614587G>C	GRCh38
NC_000011.9:g.6635818G>C , CM000673.1:g.6635818G>C	GRCh37
NC_000011.8:g.6592394G>C	NCBI36
NG_008653.1:g.9875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1537C>G	ENSP00000507321.1:p.Pro513Ala
ENST00000299427.12:c.1651C>G MANE Select	ENSP00000299427.6:p.Pro551Ala
ENST00000524611.2:n.690C>G
ENST00000533371.6:c.922C>G	ENSP00000437066.1:p.Pro308Ala
ENST00000642892.1:c.922C>G	ENSP00000494165.1:p.Pro308Ala
ENST00000643342.1:c.724C>G
ENST00000643439.1:c.*1391C>G	ENSP00000495849.1:n.*1391C>G
ENST00000643479.1:n.1837C>G
ENST00000643516.1:c.1160C>G
ENST00000644218.1:c.1462C>G	ENSP00000493574.1:p.Pro488Ala
ENST00000644683.1:c.*1104C>G	ENSP00000494085.1:n.*1104C>G
ENST00000644810.1:c.1372C>G	ENSP00000495895.1:p.Pro458Ala
ENST00000644831.1:n.1827C>G
ENST00000644933.1:c.*517C>G	ENSP00000496133.1:n.*517C>G
ENST00000645285.1:c.*517C>G	ENSP00000495058.1:n.*517C>G
ENST00000645331.1:n.2856C>G
ENST00000645620.1:c.922C>G	ENSP00000493657.1:p.Pro308Ala
ENST00000646691.1:n.1538C>G
ENST00000646777.1:n.1984C>G
ENST00000647016.1:n.2131C>G
ENST00000647152.1:c.922C>G	ENSP00000495893.1:p.Pro308Ala
ENST00000647209.1:c.*1520C>G	ENSP00000495558.1:n.*1520C>G
ENST00000647346.1:n.2671C>G
ENST00000299427.10:c.1651C>G	ENSP00000299427.6:p.Pro551Ala
ENST00000533371.5:c.922C>G	ENSP00000437066.1:p.Pro308Ala
ENST00000611494.4:c.1651-1C>G	ENSP00000484546.1:n.1651-1C>G
NM_000391.3:c.1651C>G	NP_000382.3:p.Pro551Ala
NM_000391.4:c.1651C>G MANE Select	NP_000382.3:p.Pro551Ala