Canonical Allele Identifier: CA379474446

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637673G>T (hg19) ; chr11:g.6616442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616442G>T , CM000673.2:g.6616442G>T	GRCh38
NC_000011.9:g.6637673G>T , CM000673.1:g.6637673G>T	GRCh37
NC_000011.8:g.6594249G>T	NCBI36
NG_008653.1:g.8020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.834C>A	ENSP00000507321.1:p.Ala278=
ENST00000299427.12:c.948C>A MANE Select	ENSP00000299427.6:p.Ala316=
ENST00000436873.7:c.313-368C>A
ENST00000530040.2:n.541C>A
ENST00000533371.6:c.219C>A	ENSP00000437066.1:p.Ala73=
ENST00000642892.1:c.219C>A	ENSP00000494165.1:p.Ala73=
ENST00000643342.1:c.38C>A
ENST00000643439.1:c.*688C>A	ENSP00000495849.1:n.*688C>A
ENST00000643479.1:n.1134C>A
ENST00000643516.1:c.457C>A
ENST00000644218.1:c.886+219C>A	ENSP00000493574.1:n.886+219C>A
ENST00000644683.1:c.*401C>A	ENSP00000494085.1:n.*401C>A
ENST00000644810.1:c.669C>A	ENSP00000495895.1:p.Ala223=
ENST00000644831.1:n.1124C>A
ENST00000644933.1:c.219C>A	ENSP00000496133.1:p.Ala73=
ENST00000645285.1:c.157+219C>A	ENSP00000495058.1:n.157+219C>A
ENST00000645331.1:n.1471C>A
ENST00000645620.1:c.219C>A	ENSP00000493657.1:p.Ala73=
ENST00000646691.1:n.41C>A
ENST00000646777.1:n.1281C>A
ENST00000647016.1:n.1428C>A
ENST00000647152.1:c.219C>A	ENSP00000495893.1:p.Ala73=
ENST00000647209.1:c.*817C>A	ENSP00000495558.1:n.*817C>A
ENST00000647346.1:n.1968C>A
ENST00000299427.10:c.948C>A	ENSP00000299427.6:p.Ala316=
ENST00000436873.6:c.512C>A	ENSP00000398136.2:p.Pro171His
ENST00000533371.5:c.219C>A	ENSP00000437066.1:p.Ala73=
ENST00000611494.4:c.948C>A	ENSP00000484546.1:p.Ala316=
NM_000391.3:c.948C>A	NP_000382.3:p.Ala316=
NM_000391.4:c.948C>A MANE Select	NP_000382.3:p.Ala316=