Canonical Allele Identifier: CA379475487

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638295C>A (hg19) ; chr11:g.6617064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617064C>A , CM000673.2:g.6617064C>A	GRCh38
NC_000011.9:g.6638295C>A , CM000673.1:g.6638295C>A	GRCh37
NC_000011.8:g.6594871C>A	NCBI36
NG_008653.1:g.7398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.484G>T	ENSP00000507321.1:p.Val162Leu
ENST00000299427.12:c.598G>T MANE Select	ENSP00000299427.6:p.Val200Leu
ENST00000428886.7:n.833G>T
ENST00000436873.7:c.312+237G>T
ENST00000524788.2:n.1757G>T
ENST00000524903.2:n.1873G>T
ENST00000528807.2:n.254G>T
ENST00000530040.2:n.479+295G>T
ENST00000533371.6:c.-132G>T	ENSP00000437066.1:n.-132G>T
ENST00000534644.6:n.546G>T
ENST00000642892.1:c.-132G>T	ENSP00000494165.1:n.-132G>T
ENST00000643439.1:c.*338G>T	ENSP00000495849.1:n.*338G>T
ENST00000643479.1:n.627G>T
ENST00000643516.1:c.395+237G>T
ENST00000644151.1:n.2037G>T
ENST00000644218.1:c.598G>T	ENSP00000493574.1:p.Val200Leu
ENST00000644683.1:c.*51G>T	ENSP00000494085.1:n.*51G>T
ENST00000644810.1:c.319G>T	ENSP00000495895.1:p.Val107Leu
ENST00000644831.1:n.774G>T
ENST00000644933.1:c.-132G>T	ENSP00000496133.1:n.-132G>T
ENST00000645020.1:n.1773G>T
ENST00000645285.1:c.-132G>T	ENSP00000495058.1:n.-132G>T
ENST00000645331.1:n.964G>T
ENST00000645620.1:c.-132G>T	ENSP00000493657.1:n.-132G>T
ENST00000646777.1:n.774G>T
ENST00000647016.1:n.1078G>T
ENST00000647152.1:c.-132G>T	ENSP00000495893.1:n.-132G>T
ENST00000647209.1:c.*467G>T	ENSP00000495558.1:n.*467G>T
ENST00000647346.1:n.1618G>T
ENST00000299427.10:c.598G>T	ENSP00000299427.6:p.Val200Leu
ENST00000428886.6:n.767G>T
ENST00000436873.6:c.450+295G>T	ENSP00000398136.2:n.450+295G>T
ENST00000524788.1:n.298G>T
ENST00000528571.5:c.*338G>T	ENSP00000434647.1:n.*338G>T
ENST00000528807.1:n.148G>T
ENST00000533371.5:c.-132G>T	ENSP00000437066.1:n.-132G>T
ENST00000534644.5:n.583G>T
ENST00000611494.4:c.598G>T	ENSP00000484546.1:p.Val200Leu
NM_000391.3:c.598G>T	NP_000382.3:p.Val200Leu
NM_000391.4:c.598G>T MANE Select	NP_000382.3:p.Val200Leu