Canonical Allele Identifier: CA379474406

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637665T>A (hg19) ; chr11:g.6616434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616434T>A , CM000673.2:g.6616434T>A	GRCh38
NC_000011.9:g.6637665T>A , CM000673.1:g.6637665T>A	GRCh37
NC_000011.8:g.6594241T>A	NCBI36
NG_008653.1:g.8028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.842A>T	ENSP00000507321.1:p.His281Leu
ENST00000299427.12:c.956A>T MANE Select	ENSP00000299427.6:p.His319Leu
ENST00000436873.7:c.313-360A>T
ENST00000530040.2:n.549A>T
ENST00000533371.6:c.227A>T	ENSP00000437066.1:p.His76Leu
ENST00000642892.1:c.227A>T	ENSP00000494165.1:p.His76Leu
ENST00000643342.1:c.46A>T
ENST00000643439.1:c.*696A>T	ENSP00000495849.1:n.*696A>T
ENST00000643479.1:n.1142A>T
ENST00000643516.1:c.465A>T
ENST00000644218.1:c.886+227A>T	ENSP00000493574.1:n.886+227A>T
ENST00000644683.1:c.*409A>T	ENSP00000494085.1:n.*409A>T
ENST00000644810.1:c.677A>T	ENSP00000495895.1:p.His226Leu
ENST00000644831.1:n.1132A>T
ENST00000644933.1:c.227A>T	ENSP00000496133.1:p.His76Leu
ENST00000645285.1:c.157+227A>T	ENSP00000495058.1:n.157+227A>T
ENST00000645331.1:n.1479A>T
ENST00000645620.1:c.227A>T	ENSP00000493657.1:p.His76Leu
ENST00000646691.1:n.49A>T
ENST00000646777.1:n.1289A>T
ENST00000647016.1:n.1436A>T
ENST00000647152.1:c.227A>T	ENSP00000495893.1:p.His76Leu
ENST00000647209.1:c.*825A>T	ENSP00000495558.1:n.*825A>T
ENST00000647346.1:n.1976A>T
ENST00000299427.10:c.956A>T	ENSP00000299427.6:p.His319Leu
ENST00000436873.6:c.520A>T	ENSP00000398136.2:p.Met174Leu
ENST00000533371.5:c.227A>T	ENSP00000437066.1:p.His76Leu
ENST00000611494.4:c.956A>T	ENSP00000484546.1:p.His319Leu
NM_000391.3:c.956A>T	NP_000382.3:p.His319Leu
NM_000391.4:c.956A>T MANE Select	NP_000382.3:p.His319Leu