Canonical Allele Identifier: CA5858594

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305506
• ClinVar RCV Id: RCV000365676 ; RCV000444737 ; RCV000726663 ; RCV004554762
• dbSNP Id: rs372564255
• ExAC: 11:6635816 G / C
• gnomAD v2: 11-6635816-G-C
• gnomAD v3: 11-6614585-G-C
• gnomAD v4: 11-6614585-G-C
• MyVariant Identifiers: chr11:g.6635816G>C (hg19) ; chr11:g.6614585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614585G>C , CM000673.2:g.6614585G>C	GRCh38
NC_000011.9:g.6635816G>C , CM000673.1:g.6635816G>C	GRCh37
NC_000011.8:g.6592392G>C	NCBI36
NG_008653.1:g.9877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1539C>G	ENSP00000507321.1:p.Pro513=
ENST00000299427.12:c.1653C>G MANE Select	ENSP00000299427.6:p.Pro551=
ENST00000524611.2:n.692C>G
ENST00000533371.6:c.924C>G	ENSP00000437066.1:p.Pro308=
ENST00000642892.1:c.924C>G	ENSP00000494165.1:p.Pro308=
ENST00000643342.1:c.726C>G
ENST00000643439.1:c.*1393C>G	ENSP00000495849.1:n.*1393C>G
ENST00000643479.1:n.1839C>G
ENST00000643516.1:c.1162C>G
ENST00000644218.1:c.1464C>G	ENSP00000493574.1:p.Pro488=
ENST00000644683.1:c.*1106C>G	ENSP00000494085.1:n.*1106C>G
ENST00000644810.1:c.1374C>G	ENSP00000495895.1:p.Pro458=
ENST00000644831.1:n.1829C>G
ENST00000644933.1:c.*519C>G	ENSP00000496133.1:n.*519C>G
ENST00000645285.1:c.*519C>G	ENSP00000495058.1:n.*519C>G
ENST00000645331.1:n.2858C>G
ENST00000645620.1:c.924C>G	ENSP00000493657.1:p.Pro308=
ENST00000646691.1:n.1540C>G
ENST00000646777.1:n.1986C>G
ENST00000647016.1:n.2133C>G
ENST00000647152.1:c.924C>G	ENSP00000495893.1:p.Pro308=
ENST00000647209.1:c.*1522C>G	ENSP00000495558.1:n.*1522C>G
ENST00000647346.1:n.2673C>G
ENST00000299427.10:c.1653C>G	ENSP00000299427.6:p.Pro551=
ENST00000533371.5:c.924C>G	ENSP00000437066.1:p.Pro308=
ENST00000611494.4:c.1652C>G	ENSP00000484546.1:p.Pro551Arg
NM_000391.3:c.1653C>G	NP_000382.3:p.Pro551=
NM_000391.4:c.1653C>G MANE Select	NP_000382.3:p.Pro551=