Canonical Allele Identifier: CA379472129

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1382395
• ClinVar RCV Id: RCV001890254
• dbSNP Id: rs2134590473
• gnomAD v4: 11-6614641-C-T
• MyVariant Identifiers: chr11:g.6635872C>T (hg19) ; chr11:g.6614641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614641C>T , CM000673.2:g.6614641C>T	GRCh38
NC_000011.9:g.6635872C>T , CM000673.1:g.6635872C>T	GRCh37
NC_000011.8:g.6592448C>T	NCBI36
NG_008653.1:g.9821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1483G>A	ENSP00000507321.1:p.Gly495Ser
ENST00000299427.12:c.1597G>A MANE Select	ENSP00000299427.6:p.Gly533Ser
ENST00000524611.2:n.636G>A
ENST00000524924.2:n.717G>A
ENST00000533371.6:c.868G>A	ENSP00000437066.1:p.Gly290Ser
ENST00000642892.1:c.868G>A	ENSP00000494165.1:p.Gly290Ser
ENST00000643342.1:c.670G>A
ENST00000643439.1:c.*1337G>A	ENSP00000495849.1:n.*1337G>A
ENST00000643479.1:n.1783G>A
ENST00000643516.1:c.1106G>A
ENST00000644218.1:c.1408G>A	ENSP00000493574.1:p.Gly470Ser
ENST00000644683.1:c.*1050G>A	ENSP00000494085.1:n.*1050G>A
ENST00000644810.1:c.1318G>A	ENSP00000495895.1:p.Gly440Ser
ENST00000644831.1:n.1773G>A
ENST00000644933.1:c.*463G>A	ENSP00000496133.1:n.*463G>A
ENST00000645285.1:c.*463G>A	ENSP00000495058.1:n.*463G>A
ENST00000645331.1:n.2802G>A
ENST00000645620.1:c.868G>A	ENSP00000493657.1:p.Gly290Ser
ENST00000646691.1:n.1484G>A
ENST00000646777.1:n.1930G>A
ENST00000647016.1:n.2077G>A
ENST00000647152.1:c.868G>A	ENSP00000495893.1:p.Gly290Ser
ENST00000647209.1:c.*1466G>A	ENSP00000495558.1:n.*1466G>A
ENST00000647346.1:n.2617G>A
ENST00000299427.10:c.1597G>A	ENSP00000299427.6:p.Gly533Ser
ENST00000533371.5:c.868G>A	ENSP00000437066.1:p.Gly290Ser
ENST00000611494.4:c.1597G>A	ENSP00000484546.1:p.Gly533Ser
NM_000391.3:c.1597G>A	NP_000382.3:p.Gly533Ser
NM_000391.4:c.1597G>A MANE Select	NP_000382.3:p.Gly533Ser