Canonical Allele Identifier: CA266180

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68737
• ClinVar RCV Id: RCV000059619 ; RCV000541263
• dbSNP Id: rs121908199
• MyVariant Identifiers: chr11:g.6636773C>T (hg19) ; chr11:g.6615542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615542C>T , CM000673.2:g.6615542C>T	GRCh38
NC_000011.9:g.6636773C>T , CM000673.1:g.6636773C>T	GRCh37
NC_000011.8:g.6593349C>T	NCBI36
NG_008653.1:g.8920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1052G>A	ENSP00000507321.1:p.Gly351Glu
ENST00000299427.12:c.1166G>A MANE Select	ENSP00000299427.6:p.Gly389Glu
ENST00000436873.7:c.403G>A
ENST00000524924.2:n.286G>A
ENST00000533371.6:c.437G>A	ENSP00000437066.1:p.Gly146Glu
ENST00000642892.1:c.437G>A	ENSP00000494165.1:p.Gly146Glu
ENST00000643342.1:c.239G>A
ENST00000643439.1:c.*906G>A	ENSP00000495849.1:n.*906G>A
ENST00000643479.1:n.1352G>A
ENST00000643516.1:c.675G>A
ENST00000644218.1:c.977G>A	ENSP00000493574.1:p.Gly326Glu
ENST00000644683.1:c.*619G>A	ENSP00000494085.1:n.*619G>A
ENST00000644810.1:c.887G>A	ENSP00000495895.1:p.Gly296Glu
ENST00000644831.1:n.1342G>A
ENST00000644933.1:c.*32G>A	ENSP00000496133.1:n.*32G>A
ENST00000645285.1:c.*32G>A	ENSP00000495058.1:n.*32G>A
ENST00000645331.1:n.2371G>A
ENST00000645620.1:c.437G>A	ENSP00000493657.1:p.Gly146Glu
ENST00000646691.1:n.941G>A
ENST00000646777.1:n.1499G>A
ENST00000647016.1:n.1646G>A
ENST00000647152.1:c.437G>A	ENSP00000495893.1:p.Gly146Glu
ENST00000647209.1:c.*1035G>A	ENSP00000495558.1:n.*1035G>A
ENST00000647346.1:n.2186G>A
ENST00000299427.10:c.1166G>A	ENSP00000299427.6:p.Gly389Glu
ENST00000524924.1:n.121G>A
ENST00000532191.1:n.219G>A
ENST00000533371.5:c.437G>A	ENSP00000437066.1:p.Gly146Glu
ENST00000611494.4:c.1166G>A	ENSP00000484546.1:p.Gly389Glu
NM_000391.3:c.1166G>A	NP_000382.3:p.Gly389Glu
NM_000391.4:c.1166G>A MANE Select	NP_000382.3:p.Gly389Glu