Canonical Allele Identifier: CA472771835

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636736A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615505A>G , CM000673.2:g.6615505A>G	GRCh38
NC_000011.9:g.6636736A>G , CM000673.1:g.6636736A>G	GRCh37
NC_000011.8:g.6593312A>G	NCBI36
NG_008653.1:g.8957T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1089T>C	ENSP00000507321.1:p.Asn363=
ENST00000299427.12:c.1203T>C MANE Select	ENSP00000299427.6:p.Asn401=
ENST00000436873.7:c.440T>C
ENST00000524924.2:n.323T>C
ENST00000533371.6:c.474T>C	ENSP00000437066.1:p.Asn158=
ENST00000642892.1:c.474T>C	ENSP00000494165.1:p.Asn158=
ENST00000643342.1:c.276T>C
ENST00000643439.1:c.*943T>C	ENSP00000495849.1:n.*943T>C
ENST00000643479.1:n.1389T>C
ENST00000643516.1:c.712T>C
ENST00000644218.1:c.1014T>C	ENSP00000493574.1:p.Asn338=
ENST00000644683.1:c.*656T>C	ENSP00000494085.1:n.*656T>C
ENST00000644810.1:c.924T>C	ENSP00000495895.1:p.Asn308=
ENST00000644831.1:n.1379T>C
ENST00000644933.1:c.*69T>C	ENSP00000496133.1:n.*69T>C
ENST00000645285.1:c.*69T>C	ENSP00000495058.1:n.*69T>C
ENST00000645331.1:n.2408T>C
ENST00000645620.1:c.474T>C	ENSP00000493657.1:p.Asn158=
ENST00000646691.1:n.978T>C
ENST00000646777.1:n.1536T>C
ENST00000647016.1:n.1683T>C
ENST00000647152.1:c.474T>C	ENSP00000495893.1:p.Asn158=
ENST00000647209.1:c.*1072T>C	ENSP00000495558.1:n.*1072T>C
ENST00000647346.1:n.2223T>C
ENST00000299427.10:c.1203T>C	ENSP00000299427.6:p.Asn401=
ENST00000524924.1:n.158T>C
ENST00000532191.1:n.256T>C
ENST00000533371.5:c.474T>C	ENSP00000437066.1:p.Asn158=
ENST00000611494.4:c.1203T>C	ENSP00000484546.1:p.Asn401=
NM_000391.3:c.1203T>C	NP_000382.3:p.Asn401=
NM_000391.4:c.1203T>C MANE Select	NP_000382.3:p.Asn401=