Canonical Allele Identifier: CA379472576

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636436T>G (hg19) ; chr11:g.6615205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615205T>G , CM000673.2:g.6615205T>G	GRCh38
NC_000011.9:g.6636436T>G , CM000673.1:g.6636436T>G	GRCh37
NC_000011.8:g.6593012T>G	NCBI36
NG_008653.1:g.9257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1277A>C	ENSP00000507321.1:p.Asn426Thr
ENST00000299427.12:c.1391A>C MANE Select	ENSP00000299427.6:p.Asn464Thr
ENST00000524611.2:n.251A>C
ENST00000524924.2:n.511A>C
ENST00000533371.6:c.662A>C	ENSP00000437066.1:p.Asn221Thr
ENST00000642892.1:c.662A>C	ENSP00000494165.1:p.Asn221Thr
ENST00000643342.1:c.464A>C
ENST00000643439.1:c.*1131A>C	ENSP00000495849.1:n.*1131A>C
ENST00000643479.1:n.1577A>C
ENST00000643516.1:c.900A>C
ENST00000644218.1:c.1202A>C	ENSP00000493574.1:p.Asn401Thr
ENST00000644683.1:c.*844A>C	ENSP00000494085.1:n.*844A>C
ENST00000644810.1:c.1112A>C	ENSP00000495895.1:p.Asn371Thr
ENST00000644831.1:n.1567A>C
ENST00000644933.1:c.*257A>C	ENSP00000496133.1:n.*257A>C
ENST00000645285.1:c.*257A>C	ENSP00000495058.1:n.*257A>C
ENST00000645331.1:n.2596A>C
ENST00000645620.1:c.662A>C	ENSP00000493657.1:p.Asn221Thr
ENST00000646691.1:n.1278A>C
ENST00000646777.1:n.1724A>C
ENST00000647016.1:n.1871A>C
ENST00000647152.1:c.662A>C	ENSP00000495893.1:p.Asn221Thr
ENST00000647209.1:c.*1260A>C	ENSP00000495558.1:n.*1260A>C
ENST00000647346.1:n.2411A>C
ENST00000299427.10:c.1391A>C	ENSP00000299427.6:p.Asn464Thr
ENST00000524611.1:n.269A>C
ENST00000533371.5:c.662A>C	ENSP00000437066.1:p.Asn221Thr
ENST00000611494.4:c.1391A>C	ENSP00000484546.1:p.Asn464Thr
NM_000391.3:c.1391A>C	NP_000382.3:p.Asn464Thr
NM_000391.4:c.1391A>C MANE Select	NP_000382.3:p.Asn464Thr