Canonical Allele Identifier: CA379474036

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1440475
• ClinVar RCV Id: RCV001936893
• dbSNP Id: rs1176471401
• gnomAD v2: 11-6637555-A-T
• gnomAD v4: 11-6616324-A-T
• MyVariant Identifiers: chr11:g.6637555A>T (hg19) ; chr11:g.6616324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616324A>T , CM000673.2:g.6616324A>T	GRCh38
NC_000011.9:g.6637555A>T , CM000673.1:g.6637555A>T	GRCh37
NC_000011.8:g.6594131A>T	NCBI36
NG_008653.1:g.8138T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.952T>A	ENSP00000507321.1:p.Phe318Ile
ENST00000299427.12:c.1066T>A MANE Select	ENSP00000299427.6:p.Phe356Ile
ENST00000436873.7:c.313-250T>A
ENST00000533371.6:c.337T>A	ENSP00000437066.1:p.Phe113Ile
ENST00000642892.1:c.337T>A	ENSP00000494165.1:p.Phe113Ile
ENST00000643342.1:c.156T>A
ENST00000643439.1:c.*806T>A	ENSP00000495849.1:n.*806T>A
ENST00000643479.1:n.1252T>A
ENST00000643516.1:c.575T>A
ENST00000644218.1:c.887-250T>A	ENSP00000493574.1:n.887-250T>A
ENST00000644683.1:c.*519T>A	ENSP00000494085.1:n.*519T>A
ENST00000644810.1:c.787T>A	ENSP00000495895.1:p.Phe263Ile
ENST00000644831.1:n.1242T>A
ENST00000644933.1:c.337T>A	ENSP00000496133.1:p.Phe113Ile
ENST00000645285.1:c.158-250T>A	ENSP00000495058.1:n.158-250T>A
ENST00000645331.1:n.1589T>A
ENST00000645620.1:c.337T>A	ENSP00000493657.1:p.Phe113Ile
ENST00000646691.1:n.159T>A
ENST00000646777.1:n.1399T>A
ENST00000647016.1:n.1546T>A
ENST00000647152.1:c.337T>A	ENSP00000495893.1:p.Phe113Ile
ENST00000647209.1:c.*935T>A	ENSP00000495558.1:n.*935T>A
ENST00000647346.1:n.2086T>A
ENST00000299427.10:c.1066T>A	ENSP00000299427.6:p.Phe356Ile
ENST00000533371.5:c.337T>A	ENSP00000437066.1:p.Phe113Ile
ENST00000611494.4:c.1066T>A	ENSP00000484546.1:p.Phe356Ile
NM_000391.3:c.1066T>A	NP_000382.3:p.Phe356Ile
NM_000391.4:c.1066T>A MANE Select	NP_000382.3:p.Phe356Ile