Canonical Allele Identifier: CA379472032

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1051286
• ClinVar RCV Id: RCV001359304
• dbSNP Id: rs2134590374
• MyVariant Identifiers: chr11:g.6635826C>T (hg19) ; chr11:g.6614595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614595C>T , CM000673.2:g.6614595C>T	GRCh38
NC_000011.9:g.6635826C>T , CM000673.1:g.6635826C>T	GRCh37
NC_000011.8:g.6592402C>T	NCBI36
NG_008653.1:g.9867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1529G>A	ENSP00000507321.1:p.Trp510Ter
ENST00000299427.12:c.1643G>A MANE Select	ENSP00000299427.6:p.Trp548Ter
ENST00000524611.2:n.682G>A
ENST00000533371.6:c.914G>A	ENSP00000437066.1:p.Trp305Ter
ENST00000642892.1:c.914G>A	ENSP00000494165.1:p.Trp305Ter
ENST00000643342.1:c.716G>A
ENST00000643439.1:c.*1383G>A	ENSP00000495849.1:n.*1383G>A
ENST00000643479.1:n.1829G>A
ENST00000643516.1:c.1152G>A
ENST00000644218.1:c.1454G>A	ENSP00000493574.1:p.Trp485Ter
ENST00000644683.1:c.*1096G>A	ENSP00000494085.1:n.*1096G>A
ENST00000644810.1:c.1364G>A	ENSP00000495895.1:p.Trp455Ter
ENST00000644831.1:n.1819G>A
ENST00000644933.1:c.*509G>A	ENSP00000496133.1:n.*509G>A
ENST00000645285.1:c.*509G>A	ENSP00000495058.1:n.*509G>A
ENST00000645331.1:n.2848G>A
ENST00000645620.1:c.914G>A	ENSP00000493657.1:p.Trp305Ter
ENST00000646691.1:n.1530G>A
ENST00000646777.1:n.1976G>A
ENST00000647016.1:n.2123G>A
ENST00000647152.1:c.914G>A	ENSP00000495893.1:p.Trp305Ter
ENST00000647209.1:c.*1512G>A	ENSP00000495558.1:n.*1512G>A
ENST00000647346.1:n.2663G>A
ENST00000299427.10:c.1643G>A	ENSP00000299427.6:p.Trp548Ter
ENST00000533371.5:c.914G>A	ENSP00000437066.1:p.Trp305Ter
ENST00000611494.4:c.1643G>A	ENSP00000484546.1:p.Trp548Ter
NM_000391.3:c.1643G>A	NP_000382.3:p.Trp548Ter
NM_000391.4:c.1643G>A MANE Select	NP_000382.3:p.Trp548Ter