Canonical Allele Identifier: CA472773046

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2989897
• ClinVar RCV Id: RCV003842528
• gnomAD v4: 11-6616064-C-G
• MyVariant Identifiers: chr11:g.6637295C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616064C>G , CM000673.2:g.6616064C>G	GRCh38
NC_000011.9:g.6637295C>G , CM000673.1:g.6637295C>G	GRCh37
NC_000011.8:g.6593871C>G	NCBI36
NG_008653.1:g.8398G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.972G>C	ENSP00000507321.1:p.Gly324=
ENST00000299427.12:c.1086G>C MANE Select	ENSP00000299427.6:p.Gly362=
ENST00000436873.7:c.323G>C
ENST00000524924.2:n.206G>C
ENST00000533371.6:c.357G>C	ENSP00000437066.1:p.Gly119=
ENST00000642892.1:c.357G>C	ENSP00000494165.1:p.Gly119=
ENST00000643342.1:c.176G>C
ENST00000643439.1:c.*826G>C	ENSP00000495849.1:n.*826G>C
ENST00000643479.1:n.1272G>C
ENST00000643516.1:c.595G>C
ENST00000644218.1:c.897G>C	ENSP00000493574.1:p.Gly299=
ENST00000644683.1:c.*539G>C	ENSP00000494085.1:n.*539G>C
ENST00000644810.1:c.807G>C	ENSP00000495895.1:p.Gly269=
ENST00000644831.1:n.1262G>C
ENST00000644933.1:c.357G>C	ENSP00000496133.1:p.Gly119=
ENST00000645285.1:c.168G>C	ENSP00000495058.1:p.Gly56=
ENST00000645331.1:n.1849G>C
ENST00000645620.1:c.357G>C	ENSP00000493657.1:p.Gly119=
ENST00000646691.1:n.419G>C
ENST00000646777.1:n.1419G>C
ENST00000647016.1:n.1566G>C
ENST00000647152.1:c.357G>C	ENSP00000495893.1:p.Gly119=
ENST00000647209.1:c.*955G>C	ENSP00000495558.1:n.*955G>C
ENST00000647346.1:n.2106G>C
ENST00000299427.10:c.1086G>C	ENSP00000299427.6:p.Gly362=
ENST00000524924.1:n.41G>C
ENST00000533371.5:c.357G>C	ENSP00000437066.1:p.Gly119=
ENST00000611494.4:c.1086G>C	ENSP00000484546.1:p.Gly362=
NM_000391.3:c.1086G>C	NP_000382.3:p.Gly362=
NM_000391.4:c.1086G>C MANE Select	NP_000382.3:p.Gly362=