Canonical Allele Identifier: CA472922767

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616773-G-A
• MyVariant Identifiers: chr11:g.6638004G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616773G>A , CM000673.2:g.6616773G>A	GRCh38
NC_000011.9:g.6638004G>A , CM000673.1:g.6638004G>A	GRCh37
NC_000011.8:g.6594580G>A	NCBI36
NG_008653.1:g.7689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.660C>T	ENSP00000507321.1:p.Ala220=
ENST00000299427.12:c.774C>T MANE Select	ENSP00000299427.6:p.Ala258=
ENST00000436873.7:c.312+528C>T
ENST00000524788.2:n.1933C>T
ENST00000524903.2:n.2049C>T
ENST00000528807.2:n.430C>T
ENST00000530040.2:n.480-270C>T
ENST00000533371.6:c.45C>T	ENSP00000437066.1:p.Ala15=
ENST00000642892.1:c.45C>T	ENSP00000494165.1:p.Ala15=
ENST00000643439.1:c.*514C>T	ENSP00000495849.1:n.*514C>T
ENST00000643479.1:n.803C>T
ENST00000643516.1:c.396-270C>T
ENST00000644151.1:n.2213C>T
ENST00000644218.1:c.774C>T	ENSP00000493574.1:p.Ala258=
ENST00000644683.1:c.*227C>T	ENSP00000494085.1:n.*227C>T
ENST00000644810.1:c.495C>T	ENSP00000495895.1:p.Ala165=
ENST00000644831.1:n.950C>T
ENST00000644933.1:c.45C>T	ENSP00000496133.1:p.Ala15=
ENST00000645020.1:n.2064C>T
ENST00000645285.1:c.45C>T	ENSP00000495058.1:p.Ala15=
ENST00000645331.1:n.1140C>T
ENST00000645620.1:c.45C>T	ENSP00000493657.1:p.Ala15=
ENST00000646777.1:n.950C>T
ENST00000647016.1:n.1254C>T
ENST00000647152.1:c.45C>T	ENSP00000495893.1:p.Ala15=
ENST00000647209.1:c.*643C>T	ENSP00000495558.1:n.*643C>T
ENST00000647346.1:n.1794C>T
ENST00000299427.10:c.774C>T	ENSP00000299427.6:p.Ala258=
ENST00000436873.6:c.451-270C>T	ENSP00000398136.2:n.451-270C>T
ENST00000524788.1:n.474C>T
ENST00000528807.1:n.324C>T
ENST00000533371.5:c.45C>T	ENSP00000437066.1:p.Ala15=
ENST00000611494.4:c.774C>T	ENSP00000484546.1:p.Ala258=
NM_000391.3:c.774C>T	NP_000382.3:p.Ala258=
NM_000391.4:c.774C>T MANE Select	NP_000382.3:p.Ala258=