Canonical Allele Identifier: CA379474504

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637685A>C (hg19) ; chr11:g.6616454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616454A>C , CM000673.2:g.6616454A>C	GRCh38
NC_000011.9:g.6637685A>C , CM000673.1:g.6637685A>C	GRCh37
NC_000011.8:g.6594261A>C	NCBI36
NG_008653.1:g.8008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.822T>G	ENSP00000507321.1:p.Ser274Arg
ENST00000299427.12:c.936T>G MANE Select	ENSP00000299427.6:p.Ser312Arg
ENST00000436873.7:c.313-380T>G
ENST00000530040.2:n.529T>G
ENST00000533371.6:c.207T>G	ENSP00000437066.1:p.Ser69Arg
ENST00000642892.1:c.207T>G	ENSP00000494165.1:p.Ser69Arg
ENST00000643342.1:c.26T>G
ENST00000643439.1:c.*676T>G	ENSP00000495849.1:n.*676T>G
ENST00000643479.1:n.1122T>G
ENST00000643516.1:c.445T>G
ENST00000644218.1:c.886+207T>G	ENSP00000493574.1:n.886+207T>G
ENST00000644683.1:c.*389T>G	ENSP00000494085.1:n.*389T>G
ENST00000644810.1:c.657T>G	ENSP00000495895.1:p.Ser219Arg
ENST00000644831.1:n.1112T>G
ENST00000644933.1:c.207T>G	ENSP00000496133.1:p.Ser69Arg
ENST00000645285.1:c.157+207T>G	ENSP00000495058.1:n.157+207T>G
ENST00000645331.1:n.1459T>G
ENST00000645620.1:c.207T>G	ENSP00000493657.1:p.Ser69Arg
ENST00000646691.1:n.29T>G
ENST00000646777.1:n.1269T>G
ENST00000647016.1:n.1416T>G
ENST00000647152.1:c.207T>G	ENSP00000495893.1:p.Ser69Arg
ENST00000647209.1:c.*805T>G	ENSP00000495558.1:n.*805T>G
ENST00000647346.1:n.1956T>G
ENST00000299427.10:c.936T>G	ENSP00000299427.6:p.Ser312Arg
ENST00000436873.6:c.500T>G	ENSP00000398136.2:p.Val167Gly
ENST00000533371.5:c.207T>G	ENSP00000437066.1:p.Ser69Arg
ENST00000611494.4:c.936T>G	ENSP00000484546.1:p.Ser312Arg
NM_000391.3:c.936T>G	NP_000382.3:p.Ser312Arg
NM_000391.4:c.936T>G MANE Select	NP_000382.3:p.Ser312Arg