Canonical Allele Identifier: CA379473102

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636764G>A (hg19) ; chr11:g.6615533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615533G>A , CM000673.2:g.6615533G>A	GRCh38
NC_000011.9:g.6636764G>A , CM000673.1:g.6636764G>A	GRCh37
NC_000011.8:g.6593340G>A	NCBI36
NG_008653.1:g.8929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1061C>T	ENSP00000507321.1:p.Ser354Phe
ENST00000299427.12:c.1175C>T MANE Select	ENSP00000299427.6:p.Ser392Phe
ENST00000436873.7:c.412C>T
ENST00000524924.2:n.295C>T
ENST00000533371.6:c.446C>T	ENSP00000437066.1:p.Ser149Phe
ENST00000642892.1:c.446C>T	ENSP00000494165.1:p.Ser149Phe
ENST00000643342.1:c.248C>T
ENST00000643439.1:c.*915C>T	ENSP00000495849.1:n.*915C>T
ENST00000643479.1:n.1361C>T
ENST00000643516.1:c.684C>T
ENST00000644218.1:c.986C>T	ENSP00000493574.1:p.Ser329Phe
ENST00000644683.1:c.*628C>T	ENSP00000494085.1:n.*628C>T
ENST00000644810.1:c.896C>T	ENSP00000495895.1:p.Ser299Phe
ENST00000644831.1:n.1351C>T
ENST00000644933.1:c.*41C>T	ENSP00000496133.1:n.*41C>T
ENST00000645285.1:c.*41C>T	ENSP00000495058.1:n.*41C>T
ENST00000645331.1:n.2380C>T
ENST00000645620.1:c.446C>T	ENSP00000493657.1:p.Ser149Phe
ENST00000646691.1:n.950C>T
ENST00000646777.1:n.1508C>T
ENST00000647016.1:n.1655C>T
ENST00000647152.1:c.446C>T	ENSP00000495893.1:p.Ser149Phe
ENST00000647209.1:c.*1044C>T	ENSP00000495558.1:n.*1044C>T
ENST00000647346.1:n.2195C>T
ENST00000299427.10:c.1175C>T	ENSP00000299427.6:p.Ser392Phe
ENST00000524924.1:n.130C>T
ENST00000532191.1:n.228C>T
ENST00000533371.5:c.446C>T	ENSP00000437066.1:p.Ser149Phe
ENST00000611494.4:c.1175C>T	ENSP00000484546.1:p.Ser392Phe
NM_000391.3:c.1175C>T	NP_000382.3:p.Ser392Phe
NM_000391.4:c.1175C>T MANE Select	NP_000382.3:p.Ser392Phe