Canonical Allele Identifier: CA379475303

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638207T>A (hg19) ; chr11:g.6616976T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616976T>A , CM000673.2:g.6616976T>A	GRCh38
NC_000011.9:g.6638207T>A , CM000673.1:g.6638207T>A	GRCh37
NC_000011.8:g.6594783T>A	NCBI36
NG_008653.1:g.7486A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.572A>T	ENSP00000507321.1:p.Gln191Leu
ENST00000299427.12:c.686A>T MANE Select	ENSP00000299427.6:p.Gln229Leu
ENST00000436873.7:c.312+325A>T
ENST00000524788.2:n.1845A>T
ENST00000524903.2:n.1961A>T
ENST00000528807.2:n.342A>T
ENST00000530040.2:n.479+383A>T
ENST00000533371.6:c.-44A>T	ENSP00000437066.1:n.-44A>T
ENST00000534644.6:n.634A>T
ENST00000642892.1:c.-44A>T	ENSP00000494165.1:n.-44A>T
ENST00000643439.1:c.*426A>T	ENSP00000495849.1:n.*426A>T
ENST00000643479.1:n.715A>T
ENST00000643516.1:c.395+325A>T
ENST00000644151.1:n.2125A>T
ENST00000644218.1:c.686A>T	ENSP00000493574.1:p.Gln229Leu
ENST00000644683.1:c.*139A>T	ENSP00000494085.1:n.*139A>T
ENST00000644810.1:c.407A>T	ENSP00000495895.1:p.Gln136Leu
ENST00000644831.1:n.862A>T
ENST00000644933.1:c.-44A>T	ENSP00000496133.1:n.-44A>T
ENST00000645020.1:n.1861A>T
ENST00000645285.1:c.-44A>T	ENSP00000495058.1:n.-44A>T
ENST00000645331.1:n.1052A>T
ENST00000645620.1:c.-44A>T	ENSP00000493657.1:n.-44A>T
ENST00000646777.1:n.862A>T
ENST00000647016.1:n.1166A>T
ENST00000647152.1:c.-44A>T	ENSP00000495893.1:n.-44A>T
ENST00000647209.1:c.*555A>T	ENSP00000495558.1:n.*555A>T
ENST00000647346.1:n.1706A>T
ENST00000299427.10:c.686A>T	ENSP00000299427.6:p.Gln229Leu
ENST00000436873.6:c.450+383A>T	ENSP00000398136.2:n.450+383A>T
ENST00000524788.1:n.386A>T
ENST00000528807.1:n.236A>T
ENST00000533371.5:c.-44A>T	ENSP00000437066.1:n.-44A>T
ENST00000611494.4:c.686A>T	ENSP00000484546.1:p.Gln229Leu
NM_000391.3:c.686A>T	NP_000382.3:p.Gln229Leu
NM_000391.4:c.686A>T MANE Select	NP_000382.3:p.Gln229Leu