Canonical Allele Identifier: CA5858846

Gene: TPP1

Linked Data

• dbSNP Id: rs767839250
• ExAC: 11:6638023 G / A
• gnomAD v2: 11-6638023-G-A
• gnomAD v4: 11-6616792-G-A
• MyVariant Identifiers: chr11:g.6638023G>A (hg19) ; chr11:g.6616792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616792G>A , CM000673.2:g.6616792G>A	GRCh38
NC_000011.9:g.6638023G>A , CM000673.1:g.6638023G>A	GRCh37
NC_000011.8:g.6594599G>A	NCBI36
NG_008653.1:g.7670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.641C>T	ENSP00000507321.1:p.Ala214Val
ENST00000299427.12:c.755C>T MANE Select	ENSP00000299427.6:p.Ala252Val
ENST00000436873.7:c.312+509C>T
ENST00000524788.2:n.1914C>T
ENST00000524903.2:n.2030C>T
ENST00000528807.2:n.411C>T
ENST00000530040.2:n.480-289C>T
ENST00000533371.6:c.26C>T	ENSP00000437066.1:p.Ala9Val
ENST00000642892.1:c.26C>T	ENSP00000494165.1:p.Ala9Val
ENST00000643439.1:c.*495C>T	ENSP00000495849.1:n.*495C>T
ENST00000643479.1:n.784C>T
ENST00000643516.1:c.396-289C>T
ENST00000644151.1:n.2194C>T
ENST00000644218.1:c.755C>T	ENSP00000493574.1:p.Ala252Val
ENST00000644683.1:c.*208C>T	ENSP00000494085.1:n.*208C>T
ENST00000644810.1:c.476C>T	ENSP00000495895.1:p.Ala159Val
ENST00000644831.1:n.931C>T
ENST00000644933.1:c.26C>T	ENSP00000496133.1:p.Ala9Val
ENST00000645020.1:n.2045C>T
ENST00000645285.1:c.26C>T	ENSP00000495058.1:p.Ala9Val
ENST00000645331.1:n.1121C>T
ENST00000645620.1:c.26C>T	ENSP00000493657.1:p.Ala9Val
ENST00000646777.1:n.931C>T
ENST00000647016.1:n.1235C>T
ENST00000647152.1:c.26C>T	ENSP00000495893.1:p.Ala9Val
ENST00000647209.1:c.*624C>T	ENSP00000495558.1:n.*624C>T
ENST00000647346.1:n.1775C>T
ENST00000299427.10:c.755C>T	ENSP00000299427.6:p.Ala252Val
ENST00000436873.6:c.451-289C>T	ENSP00000398136.2:n.451-289C>T
ENST00000524788.1:n.455C>T
ENST00000528807.1:n.305C>T
ENST00000533371.5:c.26C>T	ENSP00000437066.1:p.Ala9Val
ENST00000611494.4:c.755C>T	ENSP00000484546.1:p.Ala252Val
NM_000391.3:c.755C>T	NP_000382.3:p.Ala252Val
NM_000391.4:c.755C>T MANE Select	NP_000382.3:p.Ala252Val