Canonical Allele Identifier: CA379475066

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616758-T-A
• MyVariant Identifiers: chr11:g.6637989T>A (hg19) ; chr11:g.6616758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616758T>A , CM000673.2:g.6616758T>A	GRCh38
NC_000011.9:g.6637989T>A , CM000673.1:g.6637989T>A	GRCh37
NC_000011.8:g.6594565T>A	NCBI36
NG_008653.1:g.7704A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.675A>T	ENSP00000507321.1:p.Gln225His
ENST00000299427.12:c.789A>T MANE Select	ENSP00000299427.6:p.Gln263His
ENST00000436873.7:c.312+543A>T
ENST00000524788.2:n.1948A>T
ENST00000524903.2:n.2064A>T
ENST00000528807.2:n.445A>T
ENST00000530040.2:n.480-255A>T
ENST00000533371.6:c.60A>T	ENSP00000437066.1:p.Gln20His
ENST00000642892.1:c.60A>T	ENSP00000494165.1:p.Gln20His
ENST00000643439.1:c.*529A>T	ENSP00000495849.1:n.*529A>T
ENST00000643479.1:n.818A>T
ENST00000643516.1:c.396-255A>T
ENST00000644151.1:n.2228A>T
ENST00000644218.1:c.789A>T	ENSP00000493574.1:p.Gln263His
ENST00000644683.1:c.*242A>T	ENSP00000494085.1:n.*242A>T
ENST00000644810.1:c.510A>T	ENSP00000495895.1:p.Gln170His
ENST00000644831.1:n.965A>T
ENST00000644933.1:c.60A>T	ENSP00000496133.1:p.Gln20His
ENST00000645020.1:n.2079A>T
ENST00000645285.1:c.60A>T	ENSP00000495058.1:p.Gln20His
ENST00000645331.1:n.1155A>T
ENST00000645620.1:c.60A>T	ENSP00000493657.1:p.Gln20His
ENST00000646777.1:n.965A>T
ENST00000647016.1:n.1269A>T
ENST00000647152.1:c.60A>T	ENSP00000495893.1:p.Gln20His
ENST00000647209.1:c.*658A>T	ENSP00000495558.1:n.*658A>T
ENST00000647346.1:n.1809A>T
ENST00000299427.10:c.789A>T	ENSP00000299427.6:p.Gln263His
ENST00000436873.6:c.451-255A>T	ENSP00000398136.2:n.451-255A>T
ENST00000524788.1:n.489A>T
ENST00000528807.1:n.339A>T
ENST00000533371.5:c.60A>T	ENSP00000437066.1:p.Gln20His
ENST00000611494.4:c.789A>T	ENSP00000484546.1:p.Gln263His
NM_000391.3:c.789A>T	NP_000382.3:p.Gln263His
NM_000391.4:c.789A>T MANE Select	NP_000382.3:p.Gln263His