Canonical Allele Identifier: CA379472908

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636699T>G (hg19) ; chr11:g.6615468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615468T>G , CM000673.2:g.6615468T>G	GRCh38
NC_000011.9:g.6636699T>G , CM000673.1:g.6636699T>G	GRCh37
NC_000011.8:g.6593275T>G	NCBI36
NG_008653.1:g.8994A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1126A>C	ENSP00000507321.1:p.Asn376His
ENST00000299427.12:c.1240A>C MANE Select	ENSP00000299427.6:p.Asn414His
ENST00000436873.7:c.477A>C
ENST00000524924.2:n.360A>C
ENST00000533371.6:c.511A>C	ENSP00000437066.1:p.Asn171His
ENST00000642892.1:c.511A>C	ENSP00000494165.1:p.Asn171His
ENST00000643342.1:c.313A>C
ENST00000643439.1:c.*980A>C	ENSP00000495849.1:n.*980A>C
ENST00000643479.1:n.1426A>C
ENST00000643516.1:c.749A>C
ENST00000644218.1:c.1051A>C	ENSP00000493574.1:p.Asn351His
ENST00000644683.1:c.*693A>C	ENSP00000494085.1:n.*693A>C
ENST00000644810.1:c.961A>C	ENSP00000495895.1:p.Asn321His
ENST00000644831.1:n.1416A>C
ENST00000644933.1:c.*106A>C	ENSP00000496133.1:n.*106A>C
ENST00000645285.1:c.*106A>C	ENSP00000495058.1:n.*106A>C
ENST00000645331.1:n.2445A>C
ENST00000645620.1:c.511A>C	ENSP00000493657.1:p.Asn171His
ENST00000646691.1:n.1015A>C
ENST00000646777.1:n.1573A>C
ENST00000647016.1:n.1720A>C
ENST00000647152.1:c.511A>C	ENSP00000495893.1:p.Asn171His
ENST00000647209.1:c.*1109A>C	ENSP00000495558.1:n.*1109A>C
ENST00000647346.1:n.2260A>C
ENST00000299427.10:c.1240A>C	ENSP00000299427.6:p.Asn414His
ENST00000524611.1:n.6A>C
ENST00000524924.1:n.195A>C
ENST00000532191.1:n.293A>C
ENST00000533371.5:c.511A>C	ENSP00000437066.1:p.Asn171His
ENST00000611494.4:c.1240A>C	ENSP00000484546.1:p.Asn414His
NM_000391.3:c.1240A>C	NP_000382.3:p.Asn414His
NM_000391.4:c.1240A>C MANE Select	NP_000382.3:p.Asn414His