Canonical Allele Identifier: CA379472973

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615497-A-T
• MyVariant Identifiers: chr11:g.6636728A>T (hg19) ; chr11:g.6615497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615497A>T , CM000673.2:g.6615497A>T	GRCh38
NC_000011.9:g.6636728A>T , CM000673.1:g.6636728A>T	GRCh37
NC_000011.8:g.6593304A>T	NCBI36
NG_008653.1:g.8965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1097T>A	ENSP00000507321.1:p.Val366Asp
ENST00000299427.12:c.1211T>A MANE Select	ENSP00000299427.6:p.Val404Asp
ENST00000436873.7:c.448T>A
ENST00000524924.2:n.331T>A
ENST00000533371.6:c.482T>A	ENSP00000437066.1:p.Val161Asp
ENST00000642892.1:c.482T>A	ENSP00000494165.1:p.Val161Asp
ENST00000643342.1:c.284T>A
ENST00000643439.1:c.*951T>A	ENSP00000495849.1:n.*951T>A
ENST00000643479.1:n.1397T>A
ENST00000643516.1:c.720T>A
ENST00000644218.1:c.1022T>A	ENSP00000493574.1:p.Val341Asp
ENST00000644683.1:c.*664T>A	ENSP00000494085.1:n.*664T>A
ENST00000644810.1:c.932T>A	ENSP00000495895.1:p.Val311Asp
ENST00000644831.1:n.1387T>A
ENST00000644933.1:c.*77T>A	ENSP00000496133.1:n.*77T>A
ENST00000645285.1:c.*77T>A	ENSP00000495058.1:n.*77T>A
ENST00000645331.1:n.2416T>A
ENST00000645620.1:c.482T>A	ENSP00000493657.1:p.Val161Asp
ENST00000646691.1:n.986T>A
ENST00000646777.1:n.1544T>A
ENST00000647016.1:n.1691T>A
ENST00000647152.1:c.482T>A	ENSP00000495893.1:p.Val161Asp
ENST00000647209.1:c.*1080T>A	ENSP00000495558.1:n.*1080T>A
ENST00000647346.1:n.2231T>A
ENST00000299427.10:c.1211T>A	ENSP00000299427.6:p.Val404Asp
ENST00000524924.1:n.166T>A
ENST00000532191.1:n.264T>A
ENST00000533371.5:c.482T>A	ENSP00000437066.1:p.Val161Asp
ENST00000611494.4:c.1211T>A	ENSP00000484546.1:p.Val404Asp
NM_000391.3:c.1211T>A	NP_000382.3:p.Val404Asp
NM_000391.4:c.1211T>A MANE Select	NP_000382.3:p.Val404Asp