Canonical Allele Identifier: CA319220

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207597
• ClinVar RCV Id: RCV000189796 ; RCV001835715
• dbSNP Id: rs200880556
• gnomAD v2: 11-6635805-G-T
• gnomAD v3: 11-6614574-G-T
• gnomAD v4: 11-6614574-G-T
• MyVariant Identifiers: chr11:g.6635805G>T (hg19) ; chr11:g.6614574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614574G>T , CM000673.2:g.6614574G>T	GRCh38
NC_000011.9:g.6635805G>T , CM000673.1:g.6635805G>T	GRCh37
NC_000011.8:g.6592381G>T	NCBI36
NG_008653.1:g.9888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1550C>A	ENSP00000507321.1:p.Ala517Asp
ENST00000299427.12:c.1664C>A MANE Select	ENSP00000299427.6:p.Ala555Asp
ENST00000524611.2:n.703C>A
ENST00000533371.6:c.935C>A	ENSP00000437066.1:p.Ala312Asp
ENST00000642892.1:c.935C>A	ENSP00000494165.1:p.Ala312Asp
ENST00000643342.1:c.737C>A
ENST00000643439.1:c.*1404C>A	ENSP00000495849.1:n.*1404C>A
ENST00000643479.1:n.1850C>A
ENST00000643516.1:c.1173C>A
ENST00000644218.1:c.1475C>A	ENSP00000493574.1:p.Ala492Asp
ENST00000644683.1:c.*1117C>A	ENSP00000494085.1:n.*1117C>A
ENST00000644810.1:c.1385C>A	ENSP00000495895.1:p.Ala462Asp
ENST00000644831.1:n.1840C>A
ENST00000644933.1:c.*530C>A	ENSP00000496133.1:n.*530C>A
ENST00000645285.1:c.*530C>A	ENSP00000495058.1:n.*530C>A
ENST00000645331.1:n.2869C>A
ENST00000645620.1:c.935C>A	ENSP00000493657.1:p.Ala312Asp
ENST00000646691.1:n.1551C>A
ENST00000646777.1:n.1997C>A
ENST00000647016.1:n.2144C>A
ENST00000647152.1:c.935C>A	ENSP00000495893.1:p.Ala312Asp
ENST00000647209.1:c.*1533C>A	ENSP00000495558.1:n.*1533C>A
ENST00000647346.1:n.2684C>A
ENST00000299427.10:c.1664C>A	ENSP00000299427.6:p.Ala555Asp
ENST00000533371.5:c.935C>A	ENSP00000437066.1:p.Ala312Asp
ENST00000611494.4:c.1663C>A	ENSP00000484546.1:p.Leu555Ile
NM_000391.3:c.1664C>A	NP_000382.3:p.Ala555Asp
NM_000391.4:c.1664C>A MANE Select	NP_000382.3:p.Ala555Asp