Canonical Allele Identifier: CA379472551

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636424A>C (hg19) ; chr11:g.6615193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615193A>C , CM000673.2:g.6615193A>C	GRCh38
NC_000011.9:g.6636424A>C , CM000673.1:g.6636424A>C	GRCh37
NC_000011.8:g.6593000A>C	NCBI36
NG_008653.1:g.9269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1289T>G	ENSP00000507321.1:p.Ile430Ser
ENST00000299427.12:c.1403T>G MANE Select	ENSP00000299427.6:p.Ile468Ser
ENST00000524611.2:n.263T>G
ENST00000524924.2:n.523T>G
ENST00000533371.6:c.674T>G	ENSP00000437066.1:p.Ile225Ser
ENST00000642892.1:c.674T>G	ENSP00000494165.1:p.Ile225Ser
ENST00000643342.1:c.476T>G
ENST00000643439.1:c.*1143T>G	ENSP00000495849.1:n.*1143T>G
ENST00000643479.1:n.1589T>G
ENST00000643516.1:c.912T>G
ENST00000644218.1:c.1214T>G	ENSP00000493574.1:p.Ile405Ser
ENST00000644683.1:c.*856T>G	ENSP00000494085.1:n.*856T>G
ENST00000644810.1:c.1124T>G	ENSP00000495895.1:p.Ile375Ser
ENST00000644831.1:n.1579T>G
ENST00000644933.1:c.*269T>G	ENSP00000496133.1:n.*269T>G
ENST00000645285.1:c.*269T>G	ENSP00000495058.1:n.*269T>G
ENST00000645331.1:n.2608T>G
ENST00000645620.1:c.674T>G	ENSP00000493657.1:p.Ile225Ser
ENST00000646691.1:n.1290T>G
ENST00000646777.1:n.1736T>G
ENST00000647016.1:n.1883T>G
ENST00000647152.1:c.674T>G	ENSP00000495893.1:p.Ile225Ser
ENST00000647209.1:c.*1272T>G	ENSP00000495558.1:n.*1272T>G
ENST00000647346.1:n.2423T>G
ENST00000299427.10:c.1403T>G	ENSP00000299427.6:p.Ile468Ser
ENST00000524611.1:n.281T>G
ENST00000533371.5:c.674T>G	ENSP00000437066.1:p.Ile225Ser
ENST00000611494.4:c.1403T>G	ENSP00000484546.1:p.Ile468Ser
NM_000391.3:c.1403T>G	NP_000382.3:p.Ile468Ser
NM_000391.4:c.1403T>G MANE Select	NP_000382.3:p.Ile468Ser