Canonical Allele Identifier: CA379472965

Gene: TPP1

Linked Data

• dbSNP Id: rs1855566724
• gnomAD v4: 11-6615494-T-A
• MyVariant Identifiers: chr11:g.6636725T>A (hg19) ; chr11:g.6615494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615494T>A , CM000673.2:g.6615494T>A	GRCh38
NC_000011.9:g.6636725T>A , CM000673.1:g.6636725T>A	GRCh37
NC_000011.8:g.6593301T>A	NCBI36
NG_008653.1:g.8968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1100A>T	ENSP00000507321.1:p.Asp367Val
ENST00000299427.12:c.1214A>T MANE Select	ENSP00000299427.6:p.Asp405Val
ENST00000436873.7:c.451A>T
ENST00000524924.2:n.334A>T
ENST00000533371.6:c.485A>T	ENSP00000437066.1:p.Asp162Val
ENST00000642892.1:c.485A>T	ENSP00000494165.1:p.Asp162Val
ENST00000643342.1:c.287A>T
ENST00000643439.1:c.*954A>T	ENSP00000495849.1:n.*954A>T
ENST00000643479.1:n.1400A>T
ENST00000643516.1:c.723A>T
ENST00000644218.1:c.1025A>T	ENSP00000493574.1:p.Asp342Val
ENST00000644683.1:c.*667A>T	ENSP00000494085.1:n.*667A>T
ENST00000644810.1:c.935A>T	ENSP00000495895.1:p.Asp312Val
ENST00000644831.1:n.1390A>T
ENST00000644933.1:c.*80A>T	ENSP00000496133.1:n.*80A>T
ENST00000645285.1:c.*80A>T	ENSP00000495058.1:n.*80A>T
ENST00000645331.1:n.2419A>T
ENST00000645620.1:c.485A>T	ENSP00000493657.1:p.Asp162Val
ENST00000646691.1:n.989A>T
ENST00000646777.1:n.1547A>T
ENST00000647016.1:n.1694A>T
ENST00000647152.1:c.485A>T	ENSP00000495893.1:p.Asp162Val
ENST00000647209.1:c.*1083A>T	ENSP00000495558.1:n.*1083A>T
ENST00000647346.1:n.2234A>T
ENST00000299427.10:c.1214A>T	ENSP00000299427.6:p.Asp405Val
ENST00000524924.1:n.169A>T
ENST00000532191.1:n.267A>T
ENST00000533371.5:c.485A>T	ENSP00000437066.1:p.Asp162Val
ENST00000611494.4:c.1214A>T	ENSP00000484546.1:p.Asp405Val
NM_000391.3:c.1214A>T	NP_000382.3:p.Asp405Val
NM_000391.4:c.1214A>T MANE Select	NP_000382.3:p.Asp405Val