Canonical Allele Identifier: CA379473863

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637296C>A (hg19) ; chr11:g.6616065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616065C>A , CM000673.2:g.6616065C>A	GRCh38
NC_000011.9:g.6637296C>A , CM000673.1:g.6637296C>A	GRCh37
NC_000011.8:g.6593872C>A	NCBI36
NG_008653.1:g.8397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.971G>T	ENSP00000507321.1:p.Gly324Val
ENST00000299427.12:c.1085G>T MANE Select	ENSP00000299427.6:p.Gly362Val
ENST00000436873.7:c.322G>T
ENST00000524924.2:n.205G>T
ENST00000533371.6:c.356G>T	ENSP00000437066.1:p.Gly119Val
ENST00000642892.1:c.356G>T	ENSP00000494165.1:p.Gly119Val
ENST00000643342.1:c.175G>T
ENST00000643439.1:c.*825G>T	ENSP00000495849.1:n.*825G>T
ENST00000643479.1:n.1271G>T
ENST00000643516.1:c.594G>T
ENST00000644218.1:c.896G>T	ENSP00000493574.1:p.Gly299Val
ENST00000644683.1:c.*538G>T	ENSP00000494085.1:n.*538G>T
ENST00000644810.1:c.806G>T	ENSP00000495895.1:p.Gly269Val
ENST00000644831.1:n.1261G>T
ENST00000644933.1:c.356G>T	ENSP00000496133.1:p.Gly119Val
ENST00000645285.1:c.167G>T	ENSP00000495058.1:p.Gly56Val
ENST00000645331.1:n.1848G>T
ENST00000645620.1:c.356G>T	ENSP00000493657.1:p.Gly119Val
ENST00000646691.1:n.418G>T
ENST00000646777.1:n.1418G>T
ENST00000647016.1:n.1565G>T
ENST00000647152.1:c.356G>T	ENSP00000495893.1:p.Gly119Val
ENST00000647209.1:c.*954G>T	ENSP00000495558.1:n.*954G>T
ENST00000647346.1:n.2105G>T
ENST00000299427.10:c.1085G>T	ENSP00000299427.6:p.Gly362Val
ENST00000524924.1:n.40G>T
ENST00000533371.5:c.356G>T	ENSP00000437066.1:p.Gly119Val
ENST00000611494.4:c.1085G>T	ENSP00000484546.1:p.Gly362Val
NM_000391.3:c.1085G>T	NP_000382.3:p.Gly362Val
NM_000391.4:c.1085G>T MANE Select	NP_000382.3:p.Gly362Val