Canonical Allele Identifier: CA472922672

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637929A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616698A>C , CM000673.2:g.6616698A>C	GRCh38
NC_000011.9:g.6637929A>C , CM000673.1:g.6637929A>C	GRCh37
NC_000011.8:g.6594505A>C	NCBI36
NG_008653.1:g.7764T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.735T>G	ENSP00000507321.1:p.Ala245=
ENST00000299427.12:c.849T>G MANE Select	ENSP00000299427.6:p.Ala283=
ENST00000436873.7:c.312+603T>G
ENST00000524788.2:n.2008T>G
ENST00000524903.2:n.2124T>G
ENST00000528807.2:n.505T>G
ENST00000530040.2:n.480-195T>G
ENST00000533371.6:c.120T>G	ENSP00000437066.1:p.Ala40=
ENST00000642892.1:c.120T>G	ENSP00000494165.1:p.Ala40=
ENST00000643439.1:c.*589T>G	ENSP00000495849.1:n.*589T>G
ENST00000643479.1:n.878T>G
ENST00000643516.1:c.396-195T>G
ENST00000644151.1:n.2288T>G
ENST00000644218.1:c.849T>G	ENSP00000493574.1:p.Ala283=
ENST00000644683.1:c.*302T>G	ENSP00000494085.1:n.*302T>G
ENST00000644810.1:c.570T>G	ENSP00000495895.1:p.Ala190=
ENST00000644831.1:n.1025T>G
ENST00000644933.1:c.120T>G	ENSP00000496133.1:p.Ala40=
ENST00000645020.1:n.2139T>G
ENST00000645285.1:c.120T>G	ENSP00000495058.1:p.Ala40=
ENST00000645331.1:n.1215T>G
ENST00000645620.1:c.120T>G	ENSP00000493657.1:p.Ala40=
ENST00000646777.1:n.1025T>G
ENST00000647016.1:n.1329T>G
ENST00000647152.1:c.120T>G	ENSP00000495893.1:p.Ala40=
ENST00000647209.1:c.*718T>G	ENSP00000495558.1:n.*718T>G
ENST00000647346.1:n.1869T>G
ENST00000299427.10:c.849T>G	ENSP00000299427.6:p.Ala283=
ENST00000436873.6:c.451-195T>G	ENSP00000398136.2:n.451-195T>G
ENST00000524788.1:n.549T>G
ENST00000528807.1:n.399T>G
ENST00000533371.5:c.120T>G	ENSP00000437066.1:p.Ala40=
ENST00000611494.4:c.849T>G	ENSP00000484546.1:p.Ala283=
NM_000391.3:c.849T>G	NP_000382.3:p.Ala283=
NM_000391.4:c.849T>G MANE Select	NP_000382.3:p.Ala283=