Canonical Allele Identifier: CA472769762

Gene: TPP1

Linked Data

• ClinVar Variation Id: 750911
• ClinVar RCV Id: RCV000927922
• dbSNP Id: rs1589947366
• MyVariant Identifiers: chr11:g.6635906G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614675G>C , CM000673.2:g.6614675G>C	GRCh38
NC_000011.9:g.6635906G>C , CM000673.1:g.6635906G>C	GRCh37
NC_000011.8:g.6592482G>C	NCBI36
NG_008653.1:g.9787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1449C>G	ENSP00000507321.1:p.Gly483=
ENST00000299427.12:c.1563C>G MANE Select	ENSP00000299427.6:p.Gly521=
ENST00000524611.2:n.602C>G
ENST00000524924.2:n.683C>G
ENST00000533371.6:c.834C>G	ENSP00000437066.1:p.Gly278=
ENST00000642892.1:c.834C>G	ENSP00000494165.1:p.Gly278=
ENST00000643342.1:c.636C>G
ENST00000643439.1:c.*1303C>G	ENSP00000495849.1:n.*1303C>G
ENST00000643479.1:n.1749C>G
ENST00000643516.1:c.1072C>G
ENST00000644218.1:c.1374C>G	ENSP00000493574.1:p.Gly458=
ENST00000644683.1:c.*1016C>G	ENSP00000494085.1:n.*1016C>G
ENST00000644810.1:c.1284C>G	ENSP00000495895.1:p.Gly428=
ENST00000644831.1:n.1739C>G
ENST00000644933.1:c.*429C>G	ENSP00000496133.1:n.*429C>G
ENST00000645285.1:c.*429C>G	ENSP00000495058.1:n.*429C>G
ENST00000645331.1:n.2768C>G
ENST00000645620.1:c.834C>G	ENSP00000493657.1:p.Gly278=
ENST00000646691.1:n.1450C>G
ENST00000646777.1:n.1896C>G
ENST00000647016.1:n.2043C>G
ENST00000647152.1:c.834C>G	ENSP00000495893.1:p.Gly278=
ENST00000647209.1:c.*1432C>G	ENSP00000495558.1:n.*1432C>G
ENST00000647346.1:n.2583C>G
ENST00000299427.10:c.1563C>G	ENSP00000299427.6:p.Gly521=
ENST00000524611.1:n.441C>G
ENST00000533371.5:c.834C>G	ENSP00000437066.1:p.Gly278=
ENST00000611494.4:c.1563C>G	ENSP00000484546.1:p.Gly521=
NM_000391.3:c.1563C>G	NP_000382.3:p.Gly521=
NM_000391.4:c.1563C>G MANE Select	NP_000382.3:p.Gly521=