Canonical Allele Identifier: CA379471962

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635799A>T (hg19) ; chr11:g.6614568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614568A>T , CM000673.2:g.6614568A>T	GRCh38
NC_000011.9:g.6635799A>T , CM000673.1:g.6635799A>T	GRCh37
NC_000011.8:g.6592375A>T	NCBI36
NG_008653.1:g.9894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1556T>A	ENSP00000507321.1:p.Leu519Gln
ENST00000299427.12:c.1670T>A MANE Select	ENSP00000299427.6:p.Leu557Gln
ENST00000524611.2:n.709T>A
ENST00000533371.6:c.941T>A	ENSP00000437066.1:p.Leu314Gln
ENST00000642892.1:c.941T>A	ENSP00000494165.1:p.Leu314Gln
ENST00000643342.1:c.743T>A
ENST00000643439.1:c.*1410T>A	ENSP00000495849.1:n.*1410T>A
ENST00000643479.1:n.1856T>A
ENST00000643516.1:c.1179T>A
ENST00000644218.1:c.1481T>A	ENSP00000493574.1:p.Leu494Gln
ENST00000644683.1:c.*1123T>A	ENSP00000494085.1:n.*1123T>A
ENST00000644810.1:c.1391T>A	ENSP00000495895.1:p.Leu464Gln
ENST00000644831.1:n.1846T>A
ENST00000644933.1:c.*536T>A	ENSP00000496133.1:n.*536T>A
ENST00000645285.1:c.*536T>A	ENSP00000495058.1:n.*536T>A
ENST00000645331.1:n.2875T>A
ENST00000645620.1:c.941T>A	ENSP00000493657.1:p.Leu314Gln
ENST00000646691.1:n.1557T>A
ENST00000646777.1:n.2003T>A
ENST00000647016.1:n.2150T>A
ENST00000647152.1:c.941T>A	ENSP00000495893.1:p.Leu314Gln
ENST00000647209.1:c.*1539T>A	ENSP00000495558.1:n.*1539T>A
ENST00000647346.1:n.2690T>A
ENST00000299427.10:c.1670T>A	ENSP00000299427.6:p.Leu557Gln
ENST00000533371.5:c.941T>A	ENSP00000437066.1:p.Leu314Gln
ENST00000611494.4:c.1669T>A	ENSP00000484546.1:p.Ter557Arg
NM_000391.3:c.1670T>A	NP_000382.3:p.Leu557Gln
NM_000391.4:c.1670T>A MANE Select	NP_000382.3:p.Leu557Gln