Canonical Allele Identifier: CA379472919

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636704A>C (hg19) ; chr11:g.6615473A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615473A>C , CM000673.2:g.6615473A>C	GRCh38
NC_000011.9:g.6636704A>C , CM000673.1:g.6636704A>C	GRCh37
NC_000011.8:g.6593280A>C	NCBI36
NG_008653.1:g.8989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1121T>G	ENSP00000507321.1:p.Phe374Cys
ENST00000299427.12:c.1235T>G MANE Select	ENSP00000299427.6:p.Phe412Cys
ENST00000436873.7:c.472T>G
ENST00000524924.2:n.355T>G
ENST00000533371.6:c.506T>G	ENSP00000437066.1:p.Phe169Cys
ENST00000642892.1:c.506T>G	ENSP00000494165.1:p.Phe169Cys
ENST00000643342.1:c.308T>G
ENST00000643439.1:c.*975T>G	ENSP00000495849.1:n.*975T>G
ENST00000643479.1:n.1421T>G
ENST00000643516.1:c.744T>G
ENST00000644218.1:c.1046T>G	ENSP00000493574.1:p.Phe349Cys
ENST00000644683.1:c.*688T>G	ENSP00000494085.1:n.*688T>G
ENST00000644810.1:c.956T>G	ENSP00000495895.1:p.Phe319Cys
ENST00000644831.1:n.1411T>G
ENST00000644933.1:c.*101T>G	ENSP00000496133.1:n.*101T>G
ENST00000645285.1:c.*101T>G	ENSP00000495058.1:n.*101T>G
ENST00000645331.1:n.2440T>G
ENST00000645620.1:c.506T>G	ENSP00000493657.1:p.Phe169Cys
ENST00000646691.1:n.1010T>G
ENST00000646777.1:n.1568T>G
ENST00000647016.1:n.1715T>G
ENST00000647152.1:c.506T>G	ENSP00000495893.1:p.Phe169Cys
ENST00000647209.1:c.*1104T>G	ENSP00000495558.1:n.*1104T>G
ENST00000647346.1:n.2255T>G
ENST00000299427.10:c.1235T>G	ENSP00000299427.6:p.Phe412Cys
ENST00000524611.1:n.1T>G
ENST00000524924.1:n.190T>G
ENST00000532191.1:n.288T>G
ENST00000533371.5:c.506T>G	ENSP00000437066.1:p.Phe169Cys
ENST00000611494.4:c.1235T>G	ENSP00000484546.1:p.Phe412Cys
NM_000391.3:c.1235T>G	NP_000382.3:p.Phe412Cys
NM_000391.4:c.1235T>G MANE Select	NP_000382.3:p.Phe412Cys