Canonical Allele Identifier: CA379472041

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635830C>A (hg19) ; chr11:g.6614599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614599C>A , CM000673.2:g.6614599C>A	GRCh38
NC_000011.9:g.6635830C>A , CM000673.1:g.6635830C>A	GRCh37
NC_000011.8:g.6592406C>A	NCBI36
NG_008653.1:g.9863G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1525G>T	ENSP00000507321.1:p.Gly509Cys
ENST00000299427.12:c.1639G>T MANE Select	ENSP00000299427.6:p.Gly547Cys
ENST00000524611.2:n.678G>T
ENST00000533371.6:c.910G>T	ENSP00000437066.1:p.Gly304Cys
ENST00000642892.1:c.910G>T	ENSP00000494165.1:p.Gly304Cys
ENST00000643342.1:c.712G>T
ENST00000643439.1:c.*1379G>T	ENSP00000495849.1:n.*1379G>T
ENST00000643479.1:n.1825G>T
ENST00000643516.1:c.1148G>T
ENST00000644218.1:c.1450G>T	ENSP00000493574.1:p.Gly484Cys
ENST00000644683.1:c.*1092G>T	ENSP00000494085.1:n.*1092G>T
ENST00000644810.1:c.1360G>T	ENSP00000495895.1:p.Gly454Cys
ENST00000644831.1:n.1815G>T
ENST00000644933.1:c.*505G>T	ENSP00000496133.1:n.*505G>T
ENST00000645285.1:c.*505G>T	ENSP00000495058.1:n.*505G>T
ENST00000645331.1:n.2844G>T
ENST00000645620.1:c.910G>T	ENSP00000493657.1:p.Gly304Cys
ENST00000646691.1:n.1526G>T
ENST00000646777.1:n.1972G>T
ENST00000647016.1:n.2119G>T
ENST00000647152.1:c.910G>T	ENSP00000495893.1:p.Gly304Cys
ENST00000647209.1:c.*1508G>T	ENSP00000495558.1:n.*1508G>T
ENST00000647346.1:n.2659G>T
ENST00000299427.10:c.1639G>T	ENSP00000299427.6:p.Gly547Cys
ENST00000533371.5:c.910G>T	ENSP00000437066.1:p.Gly304Cys
ENST00000611494.4:c.1639G>T	ENSP00000484546.1:p.Gly547Cys
NM_000391.3:c.1639G>T	NP_000382.3:p.Gly547Cys
NM_000391.4:c.1639G>T MANE Select	NP_000382.3:p.Gly547Cys