Canonical Allele Identifier: CA472922692

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637947C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616716C>A , CM000673.2:g.6616716C>A	GRCh38
NC_000011.9:g.6637947C>A , CM000673.1:g.6637947C>A	GRCh37
NC_000011.8:g.6594523C>A	NCBI36
NG_008653.1:g.7746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.717G>T	ENSP00000507321.1:p.Val239=
ENST00000299427.12:c.831G>T MANE Select	ENSP00000299427.6:p.Val277=
ENST00000436873.7:c.312+585G>T
ENST00000524788.2:n.1990G>T
ENST00000524903.2:n.2106G>T
ENST00000528807.2:n.487G>T
ENST00000530040.2:n.480-213G>T
ENST00000533371.6:c.102G>T	ENSP00000437066.1:p.Val34=
ENST00000642892.1:c.102G>T	ENSP00000494165.1:p.Val34=
ENST00000643439.1:c.*571G>T	ENSP00000495849.1:n.*571G>T
ENST00000643479.1:n.860G>T
ENST00000643516.1:c.396-213G>T
ENST00000644151.1:n.2270G>T
ENST00000644218.1:c.831G>T	ENSP00000493574.1:p.Val277=
ENST00000644683.1:c.*284G>T	ENSP00000494085.1:n.*284G>T
ENST00000644810.1:c.552G>T	ENSP00000495895.1:p.Val184=
ENST00000644831.1:n.1007G>T
ENST00000644933.1:c.102G>T	ENSP00000496133.1:p.Val34=
ENST00000645020.1:n.2121G>T
ENST00000645285.1:c.102G>T	ENSP00000495058.1:p.Val34=
ENST00000645331.1:n.1197G>T
ENST00000645620.1:c.102G>T	ENSP00000493657.1:p.Val34=
ENST00000646777.1:n.1007G>T
ENST00000647016.1:n.1311G>T
ENST00000647152.1:c.102G>T	ENSP00000495893.1:p.Val34=
ENST00000647209.1:c.*700G>T	ENSP00000495558.1:n.*700G>T
ENST00000647346.1:n.1851G>T
ENST00000299427.10:c.831G>T	ENSP00000299427.6:p.Val277=
ENST00000436873.6:c.451-213G>T	ENSP00000398136.2:n.451-213G>T
ENST00000524788.1:n.531G>T
ENST00000528807.1:n.381G>T
ENST00000533371.5:c.102G>T	ENSP00000437066.1:p.Val34=
ENST00000611494.4:c.831G>T	ENSP00000484546.1:p.Val277=
NM_000391.3:c.831G>T	NP_000382.3:p.Val277=
NM_000391.4:c.831G>T MANE Select	NP_000382.3:p.Val277=