Canonical Allele Identifier: CA217320797

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1429764
• ClinVar RCV Id: RCV001967332
• dbSNP Id: rs987390731
• gnomAD v2: 11-6635825-C-T
• gnomAD v3: 11-6614594-C-T
• gnomAD v4: 11-6614594-C-T
• MyVariant Identifiers: chr11:g.6635825C>T (hg19) ; chr11:g.6614594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614594C>T , CM000673.2:g.6614594C>T	GRCh38
NC_000011.9:g.6635825C>T , CM000673.1:g.6635825C>T	GRCh37
NC_000011.8:g.6592401C>T	NCBI36
NG_008653.1:g.9868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1530G>A	ENSP00000507321.1:p.Trp510Ter
ENST00000299427.12:c.1644G>A MANE Select	ENSP00000299427.6:p.Trp548Ter
ENST00000524611.2:n.683G>A
ENST00000533371.6:c.915G>A	ENSP00000437066.1:p.Trp305Ter
ENST00000642892.1:c.915G>A	ENSP00000494165.1:p.Trp305Ter
ENST00000643342.1:c.717G>A
ENST00000643439.1:c.*1384G>A	ENSP00000495849.1:n.*1384G>A
ENST00000643479.1:n.1830G>A
ENST00000643516.1:c.1153G>A
ENST00000644218.1:c.1455G>A	ENSP00000493574.1:p.Trp485Ter
ENST00000644683.1:c.*1097G>A	ENSP00000494085.1:n.*1097G>A
ENST00000644810.1:c.1365G>A	ENSP00000495895.1:p.Trp455Ter
ENST00000644831.1:n.1820G>A
ENST00000644933.1:c.*510G>A	ENSP00000496133.1:n.*510G>A
ENST00000645285.1:c.*510G>A	ENSP00000495058.1:n.*510G>A
ENST00000645331.1:n.2849G>A
ENST00000645620.1:c.915G>A	ENSP00000493657.1:p.Trp305Ter
ENST00000646691.1:n.1531G>A
ENST00000646777.1:n.1977G>A
ENST00000647016.1:n.2124G>A
ENST00000647152.1:c.915G>A	ENSP00000495893.1:p.Trp305Ter
ENST00000647209.1:c.*1513G>A	ENSP00000495558.1:n.*1513G>A
ENST00000647346.1:n.2664G>A
ENST00000299427.10:c.1644G>A	ENSP00000299427.6:p.Trp548Ter
ENST00000533371.5:c.915G>A	ENSP00000437066.1:p.Trp305Ter
ENST00000611494.4:c.1644G>A	ENSP00000484546.1:p.Trp548Ter
NM_000391.3:c.1644G>A	NP_000382.3:p.Trp548Ter
NM_000391.4:c.1644G>A MANE Select	NP_000382.3:p.Trp548Ter