Canonical Allele Identifier: CA5858840

Gene: TPP1

Linked Data

• dbSNP Id: rs769442364
• ExAC: 11:6638005 G / T
• gnomAD v2: 11-6638005-G-T
• gnomAD v3: 11-6616774-G-T
• gnomAD v4: 11-6616774-G-T
• MyVariant Identifiers: chr11:g.6638005G>T (hg19) ; chr11:g.6616774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616774G>T , CM000673.2:g.6616774G>T	GRCh38
NC_000011.9:g.6638005G>T , CM000673.1:g.6638005G>T	GRCh37
NC_000011.8:g.6594581G>T	NCBI36
NG_008653.1:g.7688C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.659C>A	ENSP00000507321.1:p.Ala220Asp
ENST00000299427.12:c.773C>A MANE Select	ENSP00000299427.6:p.Ala258Asp
ENST00000436873.7:c.312+527C>A
ENST00000524788.2:n.1932C>A
ENST00000524903.2:n.2048C>A
ENST00000528807.2:n.429C>A
ENST00000530040.2:n.480-271C>A
ENST00000533371.6:c.44C>A	ENSP00000437066.1:p.Ala15Asp
ENST00000642892.1:c.44C>A	ENSP00000494165.1:p.Ala15Asp
ENST00000643439.1:c.*513C>A	ENSP00000495849.1:n.*513C>A
ENST00000643479.1:n.802C>A
ENST00000643516.1:c.396-271C>A
ENST00000644151.1:n.2212C>A
ENST00000644218.1:c.773C>A	ENSP00000493574.1:p.Ala258Asp
ENST00000644683.1:c.*226C>A	ENSP00000494085.1:n.*226C>A
ENST00000644810.1:c.494C>A	ENSP00000495895.1:p.Ala165Asp
ENST00000644831.1:n.949C>A
ENST00000644933.1:c.44C>A	ENSP00000496133.1:p.Ala15Asp
ENST00000645020.1:n.2063C>A
ENST00000645285.1:c.44C>A	ENSP00000495058.1:p.Ala15Asp
ENST00000645331.1:n.1139C>A
ENST00000645620.1:c.44C>A	ENSP00000493657.1:p.Ala15Asp
ENST00000646777.1:n.949C>A
ENST00000647016.1:n.1253C>A
ENST00000647152.1:c.44C>A	ENSP00000495893.1:p.Ala15Asp
ENST00000647209.1:c.*642C>A	ENSP00000495558.1:n.*642C>A
ENST00000647346.1:n.1793C>A
ENST00000299427.10:c.773C>A	ENSP00000299427.6:p.Ala258Asp
ENST00000436873.6:c.451-271C>A	ENSP00000398136.2:n.451-271C>A
ENST00000524788.1:n.473C>A
ENST00000528807.1:n.323C>A
ENST00000533371.5:c.44C>A	ENSP00000437066.1:p.Ala15Asp
ENST00000611494.4:c.773C>A	ENSP00000484546.1:p.Ala258Asp
NM_000391.3:c.773C>A	NP_000382.3:p.Ala258Asp
NM_000391.4:c.773C>A MANE Select	NP_000382.3:p.Ala258Asp