Canonical Allele Identifier: CA379474792

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637892C>G (hg19) ; chr11:g.6616661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616661C>G , CM000673.2:g.6616661C>G	GRCh38
NC_000011.9:g.6637892C>G , CM000673.1:g.6637892C>G	GRCh37
NC_000011.8:g.6594468C>G	NCBI36
NG_008653.1:g.7801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772G>C	ENSP00000507321.1:p.Gly258Arg
ENST00000299427.12:c.886G>C MANE Select	ENSP00000299427.6:p.Gly296Arg
ENST00000436873.7:c.313-587G>C
ENST00000524788.2:n.2045G>C
ENST00000524903.2:n.2161G>C
ENST00000528807.2:n.542G>C
ENST00000530040.2:n.480-158G>C
ENST00000533371.6:c.157G>C	ENSP00000437066.1:p.Gly53Arg
ENST00000642892.1:c.157G>C	ENSP00000494165.1:p.Gly53Arg
ENST00000643439.1:c.*626G>C	ENSP00000495849.1:n.*626G>C
ENST00000643479.1:n.915G>C
ENST00000643516.1:c.396-158G>C
ENST00000644151.1:n.2325G>C
ENST00000644218.1:c.886G>C	ENSP00000493574.1:p.Gly296Arg
ENST00000644683.1:c.*339G>C	ENSP00000494085.1:n.*339G>C
ENST00000644810.1:c.607G>C	ENSP00000495895.1:p.Gly203Arg
ENST00000644831.1:n.1062G>C
ENST00000644933.1:c.157G>C	ENSP00000496133.1:p.Gly53Arg
ENST00000645020.1:n.2176G>C
ENST00000645285.1:c.157G>C	ENSP00000495058.1:p.Gly53Arg
ENST00000645331.1:n.1252G>C
ENST00000645620.1:c.157G>C	ENSP00000493657.1:p.Gly53Arg
ENST00000646777.1:n.1062G>C
ENST00000647016.1:n.1366G>C
ENST00000647152.1:c.157G>C	ENSP00000495893.1:p.Gly53Arg
ENST00000647209.1:c.*755G>C	ENSP00000495558.1:n.*755G>C
ENST00000647346.1:n.1906G>C
ENST00000299427.10:c.886G>C	ENSP00000299427.6:p.Gly296Arg
ENST00000436873.6:c.451-158G>C	ENSP00000398136.2:n.451-158G>C
ENST00000528807.1:n.436G>C
ENST00000533371.5:c.157G>C	ENSP00000437066.1:p.Gly53Arg
ENST00000611494.4:c.886G>C	ENSP00000484546.1:p.Gly296Arg
NM_000391.3:c.886G>C	NP_000382.3:p.Gly296Arg
NM_000391.4:c.886G>C MANE Select	NP_000382.3:p.Gly296Arg