Canonical Allele Identifier: CA379472757

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636520A>T (hg19) ; chr11:g.6615289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615289A>T , CM000673.2:g.6615289A>T	GRCh38
NC_000011.9:g.6636520A>T , CM000673.1:g.6636520A>T	GRCh37
NC_000011.8:g.6593096A>T	NCBI36
NG_008653.1:g.9173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1193T>A	ENSP00000507321.1:p.Leu398Gln
ENST00000299427.12:c.1307T>A MANE Select	ENSP00000299427.6:p.Leu436Gln
ENST00000524611.2:n.167T>A
ENST00000524924.2:n.427T>A
ENST00000533371.6:c.578T>A	ENSP00000437066.1:p.Leu193Gln
ENST00000642892.1:c.578T>A	ENSP00000494165.1:p.Leu193Gln
ENST00000643342.1:c.380T>A
ENST00000643439.1:c.*1047T>A	ENSP00000495849.1:n.*1047T>A
ENST00000643479.1:n.1493T>A
ENST00000643516.1:c.816T>A
ENST00000644218.1:c.1118T>A	ENSP00000493574.1:p.Leu373Gln
ENST00000644683.1:c.*760T>A	ENSP00000494085.1:n.*760T>A
ENST00000644810.1:c.1028T>A	ENSP00000495895.1:p.Leu343Gln
ENST00000644831.1:n.1483T>A
ENST00000644933.1:c.*173T>A	ENSP00000496133.1:n.*173T>A
ENST00000645285.1:c.*173T>A	ENSP00000495058.1:n.*173T>A
ENST00000645331.1:n.2512T>A
ENST00000645620.1:c.578T>A	ENSP00000493657.1:p.Leu193Gln
ENST00000646691.1:n.1194T>A
ENST00000646777.1:n.1640T>A
ENST00000647016.1:n.1787T>A
ENST00000647152.1:c.578T>A	ENSP00000495893.1:p.Leu193Gln
ENST00000647209.1:c.*1176T>A	ENSP00000495558.1:n.*1176T>A
ENST00000647346.1:n.2327T>A
ENST00000299427.10:c.1307T>A	ENSP00000299427.6:p.Leu436Gln
ENST00000524611.1:n.185T>A
ENST00000524924.1:n.262T>A
ENST00000532191.1:n.360T>A
ENST00000533371.5:c.578T>A	ENSP00000437066.1:p.Leu193Gln
ENST00000611494.4:c.1307T>A	ENSP00000484546.1:p.Leu436Gln
NM_000391.3:c.1307T>A	NP_000382.3:p.Leu436Gln
NM_000391.4:c.1307T>A MANE Select	NP_000382.3:p.Leu436Gln