Canonical Allele Identifier: CA379471927

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635783G>C (hg19) ; chr11:g.6614552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614552G>C , CM000673.2:g.6614552G>C	GRCh38
NC_000011.9:g.6635783G>C , CM000673.1:g.6635783G>C	GRCh37
NC_000011.8:g.6592359G>C	NCBI36
NG_008653.1:g.9910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1572C>G	ENSP00000507321.1:p.Asn524Lys
ENST00000299427.12:c.1686C>G MANE Select	ENSP00000299427.6:p.Asn562Lys
ENST00000524611.2:n.725C>G
ENST00000533371.6:c.957C>G	ENSP00000437066.1:p.Asn319Lys
ENST00000642892.1:c.957C>G	ENSP00000494165.1:p.Asn319Lys
ENST00000643342.1:c.759C>G
ENST00000643439.1:c.*1426C>G	ENSP00000495849.1:n.*1426C>G
ENST00000643479.1:n.1872C>G
ENST00000643516.1:c.1195C>G
ENST00000644218.1:c.1497C>G	ENSP00000493574.1:p.Asn499Lys
ENST00000644683.1:c.*1139C>G	ENSP00000494085.1:n.*1139C>G
ENST00000644810.1:c.1407C>G	ENSP00000495895.1:p.Asn469Lys
ENST00000644831.1:n.1862C>G
ENST00000644933.1:c.*552C>G	ENSP00000496133.1:n.*552C>G
ENST00000645285.1:c.*552C>G	ENSP00000495058.1:n.*552C>G
ENST00000645331.1:n.2891C>G
ENST00000645620.1:c.957C>G	ENSP00000493657.1:p.Asn319Lys
ENST00000646691.1:n.1573C>G
ENST00000646777.1:n.2019C>G
ENST00000647016.1:n.2166C>G
ENST00000647152.1:c.957C>G	ENSP00000495893.1:p.Asn319Lys
ENST00000647209.1:c.*1555C>G	ENSP00000495558.1:n.*1555C>G
ENST00000647346.1:n.2706C>G
ENST00000299427.10:c.1686C>G	ENSP00000299427.6:p.Asn562Lys
ENST00000533371.5:c.957C>G	ENSP00000437066.1:p.Asn319Lys
ENST00000611494.4:c.*14C>G	ENSP00000484546.1:n.*14C>G
NM_000391.3:c.1686C>G	NP_000382.3:p.Asn562Lys
NM_000391.4:c.1686C>G MANE Select	NP_000382.3:p.Asn562Lys