Canonical Allele Identifier: CA379475509

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638306A>T (hg19) ; chr11:g.6617075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617075A>T , CM000673.2:g.6617075A>T	GRCh38
NC_000011.9:g.6638306A>T , CM000673.1:g.6638306A>T	GRCh37
NC_000011.8:g.6594882A>T	NCBI36
NG_008653.1:g.7387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.473T>A	ENSP00000507321.1:p.Leu158Gln
ENST00000299427.12:c.587T>A MANE Select	ENSP00000299427.6:p.Leu196Gln
ENST00000428886.7:n.822T>A
ENST00000436873.7:c.312+226T>A
ENST00000524788.2:n.1746T>A
ENST00000524903.2:n.1862T>A
ENST00000528807.2:n.243T>A
ENST00000530040.2:n.479+284T>A
ENST00000533371.6:c.-143T>A	ENSP00000437066.1:n.-143T>A
ENST00000534644.6:n.535T>A
ENST00000642892.1:c.-143T>A	ENSP00000494165.1:n.-143T>A
ENST00000643439.1:c.*327T>A	ENSP00000495849.1:n.*327T>A
ENST00000643479.1:n.616T>A
ENST00000643516.1:c.395+226T>A
ENST00000644151.1:n.2026T>A
ENST00000644218.1:c.587T>A	ENSP00000493574.1:p.Leu196Gln
ENST00000644683.1:c.*40T>A	ENSP00000494085.1:n.*40T>A
ENST00000644810.1:c.308T>A	ENSP00000495895.1:p.Leu103Gln
ENST00000644831.1:n.763T>A
ENST00000644933.1:c.-143T>A	ENSP00000496133.1:n.-143T>A
ENST00000645020.1:n.1762T>A
ENST00000645285.1:c.-143T>A	ENSP00000495058.1:n.-143T>A
ENST00000645331.1:n.953T>A
ENST00000645620.1:c.-143T>A	ENSP00000493657.1:n.-143T>A
ENST00000646777.1:n.763T>A
ENST00000647016.1:n.1067T>A
ENST00000647152.1:c.-143T>A	ENSP00000495893.1:n.-143T>A
ENST00000647209.1:c.*456T>A	ENSP00000495558.1:n.*456T>A
ENST00000647346.1:n.1607T>A
ENST00000299427.10:c.587T>A	ENSP00000299427.6:p.Leu196Gln
ENST00000428886.6:n.756T>A
ENST00000436873.6:c.450+284T>A	ENSP00000398136.2:n.450+284T>A
ENST00000524788.1:n.287T>A
ENST00000528571.5:c.*327T>A	ENSP00000434647.1:n.*327T>A
ENST00000528807.1:n.137T>A
ENST00000533371.5:c.-143T>A	ENSP00000437066.1:n.-143T>A
ENST00000534644.5:n.572T>A
ENST00000611494.4:c.587T>A	ENSP00000484546.1:p.Leu196Gln
NM_000391.3:c.587T>A	NP_000382.3:p.Leu196Gln
NM_000391.4:c.587T>A MANE Select	NP_000382.3:p.Leu196Gln