Canonical Allele Identifier: CA379472941

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615483-C-G
• MyVariant Identifiers: chr11:g.6636714C>G (hg19) ; chr11:g.6615483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615483C>G , CM000673.2:g.6615483C>G	GRCh38
NC_000011.9:g.6636714C>G , CM000673.1:g.6636714C>G	GRCh37
NC_000011.8:g.6593290C>G	NCBI36
NG_008653.1:g.8979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1111G>C	ENSP00000507321.1:p.Gly371Arg
ENST00000299427.12:c.1225G>C MANE Select	ENSP00000299427.6:p.Gly409Arg
ENST00000436873.7:c.462G>C
ENST00000524924.2:n.345G>C
ENST00000533371.6:c.496G>C	ENSP00000437066.1:p.Gly166Arg
ENST00000642892.1:c.496G>C	ENSP00000494165.1:p.Gly166Arg
ENST00000643342.1:c.298G>C
ENST00000643439.1:c.*965G>C	ENSP00000495849.1:n.*965G>C
ENST00000643479.1:n.1411G>C
ENST00000643516.1:c.734G>C
ENST00000644218.1:c.1036G>C	ENSP00000493574.1:p.Gly346Arg
ENST00000644683.1:c.*678G>C	ENSP00000494085.1:n.*678G>C
ENST00000644810.1:c.946G>C	ENSP00000495895.1:p.Gly316Arg
ENST00000644831.1:n.1401G>C
ENST00000644933.1:c.*91G>C	ENSP00000496133.1:n.*91G>C
ENST00000645285.1:c.*91G>C	ENSP00000495058.1:n.*91G>C
ENST00000645331.1:n.2430G>C
ENST00000645620.1:c.496G>C	ENSP00000493657.1:p.Gly166Arg
ENST00000646691.1:n.1000G>C
ENST00000646777.1:n.1558G>C
ENST00000647016.1:n.1705G>C
ENST00000647152.1:c.496G>C	ENSP00000495893.1:p.Gly166Arg
ENST00000647209.1:c.*1094G>C	ENSP00000495558.1:n.*1094G>C
ENST00000647346.1:n.2245G>C
ENST00000299427.10:c.1225G>C	ENSP00000299427.6:p.Gly409Arg
ENST00000524924.1:n.180G>C
ENST00000532191.1:n.278G>C
ENST00000533371.5:c.496G>C	ENSP00000437066.1:p.Gly166Arg
ENST00000611494.4:c.1225G>C	ENSP00000484546.1:p.Gly409Arg
NM_000391.3:c.1225G>C	NP_000382.3:p.Gly409Arg
NM_000391.4:c.1225G>C MANE Select	NP_000382.3:p.Gly409Arg