Canonical Allele Identifier: CA472922990

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638596G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617365G>C , CM000673.2:g.6617365G>C	GRCh38
NC_000011.9:g.6638596G>C , CM000673.1:g.6638596G>C	GRCh37
NC_000011.8:g.6595172G>C	NCBI36
NG_008653.1:g.7097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.330C>G	ENSP00000507321.1:p.Thr110=
ENST00000299427.12:c.444C>G MANE Select	ENSP00000299427.6:p.Thr148=
ENST00000428886.7:n.532C>G
ENST00000436873.7:c.248C>G
ENST00000524788.2:n.1456C>G
ENST00000524903.2:n.1572C>G
ENST00000528571.6:c.*184C>G	ENSP00000434647.1:n.*184C>G
ENST00000528807.2:n.100C>G
ENST00000530040.2:n.473C>G
ENST00000533371.6:c.-286C>G	ENSP00000437066.1:n.-286C>G
ENST00000534644.6:n.445C>G
ENST00000642892.1:c.-233C>G	ENSP00000494165.1:n.-233C>G
ENST00000643439.1:c.*184C>G	ENSP00000495849.1:n.*184C>G
ENST00000643479.1:n.473C>G
ENST00000643516.1:c.331C>G
ENST00000644151.1:n.1736C>G
ENST00000644218.1:c.444C>G	ENSP00000493574.1:p.Thr148=
ENST00000644683.1:c.444C>G	ENSP00000494085.1:p.Thr148=
ENST00000644810.1:c.230-212C>G	ENSP00000495895.1:n.230-212C>G
ENST00000644831.1:n.473C>G
ENST00000644933.1:c.-286C>G	ENSP00000496133.1:n.-286C>G
ENST00000645020.1:n.1472C>G
ENST00000645285.1:c.-286C>G	ENSP00000495058.1:n.-286C>G
ENST00000645331.1:n.663C>G
ENST00000645620.1:c.-228C>G	ENSP00000493657.1:n.-228C>G
ENST00000646777.1:n.473C>G
ENST00000647016.1:n.777C>G
ENST00000647152.1:c.-286C>G	ENSP00000495893.1:n.-286C>G
ENST00000647209.1:c.*313C>G	ENSP00000495558.1:n.*313C>G
ENST00000647346.1:n.1464C>G
ENST00000299427.10:c.444C>G	ENSP00000299427.6:p.Thr148=
ENST00000428886.6:n.466C>G
ENST00000436873.6:c.444C>G	ENSP00000398136.2:p.Thr148=
ENST00000528571.5:c.*184C>G	ENSP00000434647.1:n.*184C>G
ENST00000533371.5:c.-286C>G	ENSP00000437066.1:n.-286C>G
ENST00000534644.5:n.429C>G
ENST00000611494.4:c.444C>G	ENSP00000484546.1:p.Thr148=
NM_000391.3:c.444C>G	NP_000382.3:p.Thr148=
NM_000391.4:c.444C>G MANE Select	NP_000382.3:p.Thr148=