Canonical Allele Identifier: CA379471995

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635812A>C (hg19) ; chr11:g.6614581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614581A>C , CM000673.2:g.6614581A>C	GRCh38
NC_000011.9:g.6635812A>C , CM000673.1:g.6635812A>C	GRCh37
NC_000011.8:g.6592388A>C	NCBI36
NG_008653.1:g.9881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1543T>G	ENSP00000507321.1:p.Phe515Val
ENST00000299427.12:c.1657T>G MANE Select	ENSP00000299427.6:p.Phe553Val
ENST00000524611.2:n.696T>G
ENST00000533371.6:c.928T>G	ENSP00000437066.1:p.Phe310Val
ENST00000642892.1:c.928T>G	ENSP00000494165.1:p.Phe310Val
ENST00000643342.1:c.730T>G
ENST00000643439.1:c.*1397T>G	ENSP00000495849.1:n.*1397T>G
ENST00000643479.1:n.1843T>G
ENST00000643516.1:c.1166T>G
ENST00000644218.1:c.1468T>G	ENSP00000493574.1:p.Phe490Val
ENST00000644683.1:c.*1110T>G	ENSP00000494085.1:n.*1110T>G
ENST00000644810.1:c.1378T>G	ENSP00000495895.1:p.Phe460Val
ENST00000644831.1:n.1833T>G
ENST00000644933.1:c.*523T>G	ENSP00000496133.1:n.*523T>G
ENST00000645285.1:c.*523T>G	ENSP00000495058.1:n.*523T>G
ENST00000645331.1:n.2862T>G
ENST00000645620.1:c.928T>G	ENSP00000493657.1:p.Phe310Val
ENST00000646691.1:n.1544T>G
ENST00000646777.1:n.1990T>G
ENST00000647016.1:n.2137T>G
ENST00000647152.1:c.928T>G	ENSP00000495893.1:p.Phe310Val
ENST00000647209.1:c.*1526T>G	ENSP00000495558.1:n.*1526T>G
ENST00000647346.1:n.2677T>G
ENST00000299427.10:c.1657T>G	ENSP00000299427.6:p.Phe553Val
ENST00000533371.5:c.928T>G	ENSP00000437066.1:p.Phe310Val
ENST00000611494.4:c.1656T>G	ENSP00000484546.1:p.Thr552=
NM_000391.3:c.1657T>G	NP_000382.3:p.Phe553Val
NM_000391.4:c.1657T>G MANE Select	NP_000382.3:p.Phe553Val