Canonical Allele Identifier: CA472771772

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1547351
• ClinVar RCV Id: RCV002177354
• dbSNP Id: rs2134592076
• MyVariant Identifiers: chr11:g.6636727A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615496A>C , CM000673.2:g.6615496A>C	GRCh38
NC_000011.9:g.6636727A>C , CM000673.1:g.6636727A>C	GRCh37
NC_000011.8:g.6593303A>C	NCBI36
NG_008653.1:g.8966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1098T>G	ENSP00000507321.1:p.Val366=
ENST00000299427.12:c.1212T>G MANE Select	ENSP00000299427.6:p.Val404=
ENST00000436873.7:c.449T>G
ENST00000524924.2:n.332T>G
ENST00000533371.6:c.483T>G	ENSP00000437066.1:p.Val161=
ENST00000642892.1:c.483T>G	ENSP00000494165.1:p.Val161=
ENST00000643342.1:c.285T>G
ENST00000643439.1:c.*952T>G	ENSP00000495849.1:n.*952T>G
ENST00000643479.1:n.1398T>G
ENST00000643516.1:c.721T>G
ENST00000644218.1:c.1023T>G	ENSP00000493574.1:p.Val341=
ENST00000644683.1:c.*665T>G	ENSP00000494085.1:n.*665T>G
ENST00000644810.1:c.933T>G	ENSP00000495895.1:p.Val311=
ENST00000644831.1:n.1388T>G
ENST00000644933.1:c.*78T>G	ENSP00000496133.1:n.*78T>G
ENST00000645285.1:c.*78T>G	ENSP00000495058.1:n.*78T>G
ENST00000645331.1:n.2417T>G
ENST00000645620.1:c.483T>G	ENSP00000493657.1:p.Val161=
ENST00000646691.1:n.987T>G
ENST00000646777.1:n.1545T>G
ENST00000647016.1:n.1692T>G
ENST00000647152.1:c.483T>G	ENSP00000495893.1:p.Val161=
ENST00000647209.1:c.*1081T>G	ENSP00000495558.1:n.*1081T>G
ENST00000647346.1:n.2232T>G
ENST00000299427.10:c.1212T>G	ENSP00000299427.6:p.Val404=
ENST00000524924.1:n.167T>G
ENST00000532191.1:n.265T>G
ENST00000533371.5:c.483T>G	ENSP00000437066.1:p.Val161=
ENST00000611494.4:c.1212T>G	ENSP00000484546.1:p.Val404=
NM_000391.3:c.1212T>G	NP_000382.3:p.Val404=
NM_000391.4:c.1212T>G MANE Select	NP_000382.3:p.Val404=