Canonical Allele Identifier: CA379473139

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636774C>G (hg19) ; chr11:g.6615543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615543C>G , CM000673.2:g.6615543C>G	GRCh38
NC_000011.9:g.6636774C>G , CM000673.1:g.6636774C>G	GRCh37
NC_000011.8:g.6593350C>G	NCBI36
NG_008653.1:g.8919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1051G>C	ENSP00000507321.1:p.Gly351Arg
ENST00000299427.12:c.1165G>C MANE Select	ENSP00000299427.6:p.Gly389Arg
ENST00000436873.7:c.402G>C
ENST00000524924.2:n.285G>C
ENST00000533371.6:c.436G>C	ENSP00000437066.1:p.Gly146Arg
ENST00000642892.1:c.436G>C	ENSP00000494165.1:p.Gly146Arg
ENST00000643342.1:c.238G>C
ENST00000643439.1:c.*905G>C	ENSP00000495849.1:n.*905G>C
ENST00000643479.1:n.1351G>C
ENST00000643516.1:c.674G>C
ENST00000644218.1:c.976G>C	ENSP00000493574.1:p.Gly326Arg
ENST00000644683.1:c.*618G>C	ENSP00000494085.1:n.*618G>C
ENST00000644810.1:c.886G>C	ENSP00000495895.1:p.Gly296Arg
ENST00000644831.1:n.1341G>C
ENST00000644933.1:c.*31G>C	ENSP00000496133.1:n.*31G>C
ENST00000645285.1:c.*31G>C	ENSP00000495058.1:n.*31G>C
ENST00000645331.1:n.2370G>C
ENST00000645620.1:c.436G>C	ENSP00000493657.1:p.Gly146Arg
ENST00000646691.1:n.940G>C
ENST00000646777.1:n.1498G>C
ENST00000647016.1:n.1645G>C
ENST00000647152.1:c.436G>C	ENSP00000495893.1:p.Gly146Arg
ENST00000647209.1:c.*1034G>C	ENSP00000495558.1:n.*1034G>C
ENST00000647346.1:n.2185G>C
ENST00000299427.10:c.1165G>C	ENSP00000299427.6:p.Gly389Arg
ENST00000524924.1:n.120G>C
ENST00000532191.1:n.218G>C
ENST00000533371.5:c.436G>C	ENSP00000437066.1:p.Gly146Arg
ENST00000611494.4:c.1165G>C	ENSP00000484546.1:p.Gly389Arg
NM_000391.3:c.1165G>C	NP_000382.3:p.Gly389Arg
NM_000391.4:c.1165G>C MANE Select	NP_000382.3:p.Gly389Arg