Canonical Allele Identifier: CA379474498

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637684T>A (hg19) ; chr11:g.6616453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616453T>A , CM000673.2:g.6616453T>A	GRCh38
NC_000011.9:g.6637684T>A , CM000673.1:g.6637684T>A	GRCh37
NC_000011.8:g.6594260T>A	NCBI36
NG_008653.1:g.8009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.823A>T	ENSP00000507321.1:p.Asn275Tyr
ENST00000299427.12:c.937A>T MANE Select	ENSP00000299427.6:p.Asn313Tyr
ENST00000436873.7:c.313-379A>T
ENST00000530040.2:n.530A>T
ENST00000533371.6:c.208A>T	ENSP00000437066.1:p.Asn70Tyr
ENST00000642892.1:c.208A>T	ENSP00000494165.1:p.Asn70Tyr
ENST00000643342.1:c.27A>T
ENST00000643439.1:c.*677A>T	ENSP00000495849.1:n.*677A>T
ENST00000643479.1:n.1123A>T
ENST00000643516.1:c.446A>T
ENST00000644218.1:c.886+208A>T	ENSP00000493574.1:n.886+208A>T
ENST00000644683.1:c.*390A>T	ENSP00000494085.1:n.*390A>T
ENST00000644810.1:c.658A>T	ENSP00000495895.1:p.Asn220Tyr
ENST00000644831.1:n.1113A>T
ENST00000644933.1:c.208A>T	ENSP00000496133.1:p.Asn70Tyr
ENST00000645285.1:c.157+208A>T	ENSP00000495058.1:n.157+208A>T
ENST00000645331.1:n.1460A>T
ENST00000645620.1:c.208A>T	ENSP00000493657.1:p.Asn70Tyr
ENST00000646691.1:n.30A>T
ENST00000646777.1:n.1270A>T
ENST00000647016.1:n.1417A>T
ENST00000647152.1:c.208A>T	ENSP00000495893.1:p.Asn70Tyr
ENST00000647209.1:c.*806A>T	ENSP00000495558.1:n.*806A>T
ENST00000647346.1:n.1957A>T
ENST00000299427.10:c.937A>T	ENSP00000299427.6:p.Asn313Tyr
ENST00000436873.6:c.501A>T	ENSP00000398136.2:p.Val167=
ENST00000533371.5:c.208A>T	ENSP00000437066.1:p.Asn70Tyr
ENST00000611494.4:c.937A>T	ENSP00000484546.1:p.Asn313Tyr
NM_000391.3:c.937A>T	NP_000382.3:p.Asn313Tyr
NM_000391.4:c.937A>T MANE Select	NP_000382.3:p.Asn313Tyr