Canonical Allele Identifier: CA379472127

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635872C>A (hg19) ; chr11:g.6614641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614641C>A , CM000673.2:g.6614641C>A	GRCh38
NC_000011.9:g.6635872C>A , CM000673.1:g.6635872C>A	GRCh37
NC_000011.8:g.6592448C>A	NCBI36
NG_008653.1:g.9821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1483G>T	ENSP00000507321.1:p.Gly495Cys
ENST00000299427.12:c.1597G>T MANE Select	ENSP00000299427.6:p.Gly533Cys
ENST00000524611.2:n.636G>T
ENST00000524924.2:n.717G>T
ENST00000533371.6:c.868G>T	ENSP00000437066.1:p.Gly290Cys
ENST00000642892.1:c.868G>T	ENSP00000494165.1:p.Gly290Cys
ENST00000643342.1:c.670G>T
ENST00000643439.1:c.*1337G>T	ENSP00000495849.1:n.*1337G>T
ENST00000643479.1:n.1783G>T
ENST00000643516.1:c.1106G>T
ENST00000644218.1:c.1408G>T	ENSP00000493574.1:p.Gly470Cys
ENST00000644683.1:c.*1050G>T	ENSP00000494085.1:n.*1050G>T
ENST00000644810.1:c.1318G>T	ENSP00000495895.1:p.Gly440Cys
ENST00000644831.1:n.1773G>T
ENST00000644933.1:c.*463G>T	ENSP00000496133.1:n.*463G>T
ENST00000645285.1:c.*463G>T	ENSP00000495058.1:n.*463G>T
ENST00000645331.1:n.2802G>T
ENST00000645620.1:c.868G>T	ENSP00000493657.1:p.Gly290Cys
ENST00000646691.1:n.1484G>T
ENST00000646777.1:n.1930G>T
ENST00000647016.1:n.2077G>T
ENST00000647152.1:c.868G>T	ENSP00000495893.1:p.Gly290Cys
ENST00000647209.1:c.*1466G>T	ENSP00000495558.1:n.*1466G>T
ENST00000647346.1:n.2617G>T
ENST00000299427.10:c.1597G>T	ENSP00000299427.6:p.Gly533Cys
ENST00000533371.5:c.868G>T	ENSP00000437066.1:p.Gly290Cys
ENST00000611494.4:c.1597G>T	ENSP00000484546.1:p.Gly533Cys
NM_000391.3:c.1597G>T	NP_000382.3:p.Gly533Cys
NM_000391.4:c.1597G>T MANE Select	NP_000382.3:p.Gly533Cys