Canonical Allele Identifier: CA379473851

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637293G>A (hg19) ; chr11:g.6616062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616062G>A , CM000673.2:g.6616062G>A	GRCh38
NC_000011.9:g.6637293G>A , CM000673.1:g.6637293G>A	GRCh37
NC_000011.8:g.6593869G>A	NCBI36
NG_008653.1:g.8400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.974C>T	ENSP00000507321.1:p.Ala325Val
ENST00000299427.12:c.1088C>T MANE Select	ENSP00000299427.6:p.Ala363Val
ENST00000436873.7:c.325C>T
ENST00000524924.2:n.208C>T
ENST00000533371.6:c.359C>T	ENSP00000437066.1:p.Ala120Val
ENST00000642892.1:c.359C>T	ENSP00000494165.1:p.Ala120Val
ENST00000643342.1:c.178C>T
ENST00000643439.1:c.*828C>T	ENSP00000495849.1:n.*828C>T
ENST00000643479.1:n.1274C>T
ENST00000643516.1:c.597C>T
ENST00000644218.1:c.899C>T	ENSP00000493574.1:p.Ala300Val
ENST00000644683.1:c.*541C>T	ENSP00000494085.1:n.*541C>T
ENST00000644810.1:c.809C>T	ENSP00000495895.1:p.Ala270Val
ENST00000644831.1:n.1264C>T
ENST00000644933.1:c.359C>T	ENSP00000496133.1:p.Ala120Val
ENST00000645285.1:c.170C>T	ENSP00000495058.1:p.Ala57Val
ENST00000645331.1:n.1851C>T
ENST00000645620.1:c.359C>T	ENSP00000493657.1:p.Ala120Val
ENST00000646691.1:n.421C>T
ENST00000646777.1:n.1421C>T
ENST00000647016.1:n.1568C>T
ENST00000647152.1:c.359C>T	ENSP00000495893.1:p.Ala120Val
ENST00000647209.1:c.*957C>T	ENSP00000495558.1:n.*957C>T
ENST00000647346.1:n.2108C>T
ENST00000299427.10:c.1088C>T	ENSP00000299427.6:p.Ala363Val
ENST00000524924.1:n.43C>T
ENST00000533371.5:c.359C>T	ENSP00000437066.1:p.Ala120Val
ENST00000611494.4:c.1088C>T	ENSP00000484546.1:p.Ala363Val
NM_000391.3:c.1088C>T	NP_000382.3:p.Ala363Val
NM_000391.4:c.1088C>T MANE Select	NP_000382.3:p.Ala363Val