Canonical Allele Identifier: CA472922944

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638877C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617646C>T , CM000673.2:g.6617646C>T	GRCh38
NC_000011.9:g.6638877C>T , CM000673.1:g.6638877C>T	GRCh37
NC_000011.8:g.6595453C>T	NCBI36
NG_008653.1:g.6816G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.246G>A	ENSP00000507321.1:p.Leu82=
ENST00000299427.12:c.360G>A MANE Select	ENSP00000299427.6:p.Leu120=
ENST00000428886.7:n.448G>A
ENST00000436873.7:c.164G>A
ENST00000524788.2:n.1372G>A
ENST00000524903.2:n.1488G>A
ENST00000528571.6:c.*100G>A	ENSP00000434647.1:n.*100G>A
ENST00000530040.2:n.389G>A
ENST00000533371.6:c.-370G>A	ENSP00000437066.1:n.-370G>A
ENST00000534644.6:n.361G>A
ENST00000642892.1:c.-317G>A	ENSP00000494165.1:n.-317G>A
ENST00000643439.1:c.*100G>A	ENSP00000495849.1:n.*100G>A
ENST00000643479.1:n.389G>A
ENST00000643516.1:c.247G>A
ENST00000644151.1:n.1652G>A
ENST00000644218.1:c.360G>A	ENSP00000493574.1:p.Leu120=
ENST00000644683.1:c.360G>A	ENSP00000494085.1:p.Leu120=
ENST00000644810.1:c.230-493G>A	ENSP00000495895.1:n.230-493G>A
ENST00000644831.1:n.389G>A
ENST00000644933.1:c.-370G>A	ENSP00000496133.1:n.-370G>A
ENST00000645020.1:n.1388G>A
ENST00000645285.1:c.-370G>A	ENSP00000495058.1:n.-370G>A
ENST00000645331.1:n.382G>A
ENST00000645620.1:c.-312G>A	ENSP00000493657.1:n.-312G>A
ENST00000646777.1:n.389G>A
ENST00000647016.1:n.693G>A
ENST00000647152.1:c.-370G>A	ENSP00000495893.1:n.-370G>A
ENST00000647209.1:c.*229G>A	ENSP00000495558.1:n.*229G>A
ENST00000647346.1:n.1380G>A
ENST00000299427.10:c.360G>A	ENSP00000299427.6:p.Leu120=
ENST00000428886.6:n.382G>A
ENST00000436873.6:c.360G>A	ENSP00000398136.2:p.Leu120=
ENST00000528571.5:c.*100G>A	ENSP00000434647.1:n.*100G>A
ENST00000530040.1:n.472G>A
ENST00000533371.5:c.-370G>A	ENSP00000437066.1:n.-370G>A
ENST00000534644.5:n.345G>A
ENST00000611494.4:c.360G>A	ENSP00000484546.1:p.Leu120=
NM_000391.3:c.360G>A	NP_000382.3:p.Leu120=
NM_000391.4:c.360G>A MANE Select	NP_000382.3:p.Leu120=