Canonical Allele Identifier: CA379472697

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636492A>C (hg19) ; chr11:g.6615261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615261A>C , CM000673.2:g.6615261A>C	GRCh38
NC_000011.9:g.6636492A>C , CM000673.1:g.6636492A>C	GRCh37
NC_000011.8:g.6593068A>C	NCBI36
NG_008653.1:g.9201T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1221T>G	ENSP00000507321.1:p.Ser407Arg
ENST00000299427.12:c.1335T>G MANE Select	ENSP00000299427.6:p.Ser445Arg
ENST00000524611.2:n.195T>G
ENST00000524924.2:n.455T>G
ENST00000533371.6:c.606T>G	ENSP00000437066.1:p.Ser202Arg
ENST00000642892.1:c.606T>G	ENSP00000494165.1:p.Ser202Arg
ENST00000643342.1:c.408T>G
ENST00000643439.1:c.*1075T>G	ENSP00000495849.1:n.*1075T>G
ENST00000643479.1:n.1521T>G
ENST00000643516.1:c.844T>G
ENST00000644218.1:c.1146T>G	ENSP00000493574.1:p.Ser382Arg
ENST00000644683.1:c.*788T>G	ENSP00000494085.1:n.*788T>G
ENST00000644810.1:c.1056T>G	ENSP00000495895.1:p.Ser352Arg
ENST00000644831.1:n.1511T>G
ENST00000644933.1:c.*201T>G	ENSP00000496133.1:n.*201T>G
ENST00000645285.1:c.*201T>G	ENSP00000495058.1:n.*201T>G
ENST00000645331.1:n.2540T>G
ENST00000645620.1:c.606T>G	ENSP00000493657.1:p.Ser202Arg
ENST00000646691.1:n.1222T>G
ENST00000646777.1:n.1668T>G
ENST00000647016.1:n.1815T>G
ENST00000647152.1:c.606T>G	ENSP00000495893.1:p.Ser202Arg
ENST00000647209.1:c.*1204T>G	ENSP00000495558.1:n.*1204T>G
ENST00000647346.1:n.2355T>G
ENST00000299427.10:c.1335T>G	ENSP00000299427.6:p.Ser445Arg
ENST00000524611.1:n.213T>G
ENST00000532191.1:n.388T>G
ENST00000533371.5:c.606T>G	ENSP00000437066.1:p.Ser202Arg
ENST00000611494.4:c.1335T>G	ENSP00000484546.1:p.Ser445Arg
NM_000391.3:c.1335T>G	NP_000382.3:p.Ser445Arg
NM_000391.4:c.1335T>G MANE Select	NP_000382.3:p.Ser445Arg