Canonical Allele Identifier: CA379474575

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637700C>A (hg19) ; chr11:g.6616469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616469C>A , CM000673.2:g.6616469C>A	GRCh38
NC_000011.9:g.6637700C>A , CM000673.1:g.6637700C>A	GRCh37
NC_000011.8:g.6594276C>A	NCBI36
NG_008653.1:g.7993G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.807G>T	ENSP00000507321.1:p.Trp269Cys
ENST00000299427.12:c.921G>T MANE Select	ENSP00000299427.6:p.Trp307Cys
ENST00000436873.7:c.313-395G>T
ENST00000530040.2:n.514G>T
ENST00000533371.6:c.192G>T	ENSP00000437066.1:p.Trp64Cys
ENST00000642892.1:c.192G>T	ENSP00000494165.1:p.Trp64Cys
ENST00000643342.1:c.11G>T
ENST00000643439.1:c.*661G>T	ENSP00000495849.1:n.*661G>T
ENST00000643479.1:n.1107G>T
ENST00000643516.1:c.430G>T
ENST00000644218.1:c.886+192G>T	ENSP00000493574.1:n.886+192G>T
ENST00000644683.1:c.*374G>T	ENSP00000494085.1:n.*374G>T
ENST00000644810.1:c.642G>T	ENSP00000495895.1:p.Trp214Cys
ENST00000644831.1:n.1097G>T
ENST00000644933.1:c.192G>T	ENSP00000496133.1:p.Trp64Cys
ENST00000645285.1:c.157+192G>T	ENSP00000495058.1:n.157+192G>T
ENST00000645331.1:n.1444G>T
ENST00000645620.1:c.192G>T	ENSP00000493657.1:p.Trp64Cys
ENST00000646691.1:n.14G>T
ENST00000646777.1:n.1254G>T
ENST00000647016.1:n.1401G>T
ENST00000647152.1:c.192G>T	ENSP00000495893.1:p.Trp64Cys
ENST00000647209.1:c.*790G>T	ENSP00000495558.1:n.*790G>T
ENST00000647346.1:n.1941G>T
ENST00000299427.10:c.921G>T	ENSP00000299427.6:p.Trp307Cys
ENST00000436873.6:c.485G>T	ENSP00000398136.2:p.Gly162Val
ENST00000533371.5:c.192G>T	ENSP00000437066.1:p.Trp64Cys
ENST00000611494.4:c.921G>T	ENSP00000484546.1:p.Trp307Cys
NM_000391.3:c.921G>T	NP_000382.3:p.Trp307Cys
NM_000391.4:c.921G>T MANE Select	NP_000382.3:p.Trp307Cys