Canonical Allele Identifier: CA379474309

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637645C>G (hg19) ; chr11:g.6616414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616414C>G , CM000673.2:g.6616414C>G	GRCh38
NC_000011.9:g.6637645C>G , CM000673.1:g.6637645C>G	GRCh37
NC_000011.8:g.6594221C>G	NCBI36
NG_008653.1:g.8048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.862G>C	ENSP00000507321.1:p.Gly288Arg
ENST00000299427.12:c.976G>C MANE Select	ENSP00000299427.6:p.Gly326Arg
ENST00000436873.7:c.313-340G>C
ENST00000533371.6:c.247G>C	ENSP00000437066.1:p.Gly83Arg
ENST00000642892.1:c.247G>C	ENSP00000494165.1:p.Gly83Arg
ENST00000643342.1:c.66G>C
ENST00000643439.1:c.*716G>C	ENSP00000495849.1:n.*716G>C
ENST00000643479.1:n.1162G>C
ENST00000643516.1:c.485G>C
ENST00000644218.1:c.886+247G>C	ENSP00000493574.1:n.886+247G>C
ENST00000644683.1:c.*429G>C	ENSP00000494085.1:n.*429G>C
ENST00000644810.1:c.697G>C	ENSP00000495895.1:p.Gly233Arg
ENST00000644831.1:n.1152G>C
ENST00000644933.1:c.247G>C	ENSP00000496133.1:p.Gly83Arg
ENST00000645285.1:c.157+247G>C	ENSP00000495058.1:n.157+247G>C
ENST00000645331.1:n.1499G>C
ENST00000645620.1:c.247G>C	ENSP00000493657.1:p.Gly83Arg
ENST00000646691.1:n.69G>C
ENST00000646777.1:n.1309G>C
ENST00000647016.1:n.1456G>C
ENST00000647152.1:c.247G>C	ENSP00000495893.1:p.Gly83Arg
ENST00000647209.1:c.*845G>C	ENSP00000495558.1:n.*845G>C
ENST00000647346.1:n.1996G>C
ENST00000299427.10:c.976G>C	ENSP00000299427.6:p.Gly326Arg
ENST00000533371.5:c.247G>C	ENSP00000437066.1:p.Gly83Arg
ENST00000611494.4:c.976G>C	ENSP00000484546.1:p.Gly326Arg
NM_000391.3:c.976G>C	NP_000382.3:p.Gly326Arg
NM_000391.4:c.976G>C MANE Select	NP_000382.3:p.Gly326Arg