Canonical Allele Identifier: CA472923069

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638641G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617410G>T , CM000673.2:g.6617410G>T	GRCh38
NC_000011.9:g.6638641G>T , CM000673.1:g.6638641G>T	GRCh37
NC_000011.8:g.6595217G>T	NCBI36
NG_008653.1:g.7052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.285C>A	ENSP00000507321.1:p.Leu95=
ENST00000299427.12:c.399C>A MANE Select	ENSP00000299427.6:p.Leu133=
ENST00000428886.7:n.487C>A
ENST00000436873.7:c.203C>A
ENST00000524788.2:n.1411C>A
ENST00000524903.2:n.1527C>A
ENST00000528571.6:c.*139C>A	ENSP00000434647.1:n.*139C>A
ENST00000528807.2:n.55C>A
ENST00000530040.2:n.428C>A
ENST00000533371.6:c.-331C>A	ENSP00000437066.1:n.-331C>A
ENST00000534644.6:n.400C>A
ENST00000642892.1:c.-278C>A	ENSP00000494165.1:n.-278C>A
ENST00000643439.1:c.*139C>A	ENSP00000495849.1:n.*139C>A
ENST00000643479.1:n.428C>A
ENST00000643516.1:c.286C>A
ENST00000644151.1:n.1691C>A
ENST00000644218.1:c.399C>A	ENSP00000493574.1:p.Leu133=
ENST00000644683.1:c.399C>A	ENSP00000494085.1:p.Leu133=
ENST00000644810.1:c.230-257C>A	ENSP00000495895.1:n.230-257C>A
ENST00000644831.1:n.428C>A
ENST00000644933.1:c.-331C>A	ENSP00000496133.1:n.-331C>A
ENST00000645020.1:n.1427C>A
ENST00000645285.1:c.-331C>A	ENSP00000495058.1:n.-331C>A
ENST00000645331.1:n.618C>A
ENST00000645620.1:c.-273C>A	ENSP00000493657.1:n.-273C>A
ENST00000646777.1:n.428C>A
ENST00000647016.1:n.732C>A
ENST00000647152.1:c.-331C>A	ENSP00000495893.1:n.-331C>A
ENST00000647209.1:c.*268C>A	ENSP00000495558.1:n.*268C>A
ENST00000647346.1:n.1419C>A
ENST00000299427.10:c.399C>A	ENSP00000299427.6:p.Leu133=
ENST00000428886.6:n.421C>A
ENST00000436873.6:c.399C>A	ENSP00000398136.2:p.Leu133=
ENST00000528571.5:c.*139C>A	ENSP00000434647.1:n.*139C>A
ENST00000530040.1:n.511C>A
ENST00000533371.5:c.-331C>A	ENSP00000437066.1:n.-331C>A
ENST00000534644.5:n.384C>A
ENST00000611494.4:c.399C>A	ENSP00000484546.1:p.Leu133=
NM_000391.3:c.399C>A	NP_000382.3:p.Leu133=
NM_000391.4:c.399C>A MANE Select	NP_000382.3:p.Leu133=