Canonical Allele Identifier: CA379474042

Gene: TPP1

Linked Data

• COSMIC: COSM291640
• MyVariant Identifiers: chr11:g.6637558G>A (hg19) ; chr11:g.6616327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616327G>A , CM000673.2:g.6616327G>A	GRCh38
NC_000011.9:g.6637558G>A , CM000673.1:g.6637558G>A	GRCh37
NC_000011.8:g.6594134G>A	NCBI36
NG_008653.1:g.8135C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.949C>T	ENSP00000507321.1:p.Leu317Phe
ENST00000299427.12:c.1063C>T MANE Select	ENSP00000299427.6:p.Leu355Phe
ENST00000436873.7:c.313-253C>T
ENST00000533371.6:c.334C>T	ENSP00000437066.1:p.Leu112Phe
ENST00000642892.1:c.334C>T	ENSP00000494165.1:p.Leu112Phe
ENST00000643342.1:c.153C>T
ENST00000643439.1:c.*803C>T	ENSP00000495849.1:n.*803C>T
ENST00000643479.1:n.1249C>T
ENST00000643516.1:c.572C>T
ENST00000644218.1:c.887-253C>T	ENSP00000493574.1:n.887-253C>T
ENST00000644683.1:c.*516C>T	ENSP00000494085.1:n.*516C>T
ENST00000644810.1:c.784C>T	ENSP00000495895.1:p.Leu262Phe
ENST00000644831.1:n.1239C>T
ENST00000644933.1:c.334C>T	ENSP00000496133.1:p.Leu112Phe
ENST00000645285.1:c.158-253C>T	ENSP00000495058.1:n.158-253C>T
ENST00000645331.1:n.1586C>T
ENST00000645620.1:c.334C>T	ENSP00000493657.1:p.Leu112Phe
ENST00000646691.1:n.156C>T
ENST00000646777.1:n.1396C>T
ENST00000647016.1:n.1543C>T
ENST00000647152.1:c.334C>T	ENSP00000495893.1:p.Leu112Phe
ENST00000647209.1:c.*932C>T	ENSP00000495558.1:n.*932C>T
ENST00000647346.1:n.2083C>T
ENST00000299427.10:c.1063C>T	ENSP00000299427.6:p.Leu355Phe
ENST00000533371.5:c.334C>T	ENSP00000437066.1:p.Leu112Phe
ENST00000611494.4:c.1063C>T	ENSP00000484546.1:p.Leu355Phe
NM_000391.3:c.1063C>T	NP_000382.3:p.Leu355Phe
NM_000391.4:c.1063C>T MANE Select	NP_000382.3:p.Leu355Phe