Canonical Allele Identifier: CA266192

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68750
• ClinVar RCV Id: RCV000059632
• dbSNP Id: rs121908196
• MyVariant Identifiers: chr11:g.6637918A>T (hg19) ; chr11:g.6616687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616687A>T , CM000673.2:g.6616687A>T	GRCh38
NC_000011.9:g.6637918A>T , CM000673.1:g.6637918A>T	GRCh37
NC_000011.8:g.6594494A>T	NCBI36
NG_008653.1:g.7775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.746T>A	ENSP00000507321.1:p.Ile249Asn
ENST00000299427.12:c.860T>A MANE Select	ENSP00000299427.6:p.Ile287Asn
ENST00000436873.7:c.313-613T>A
ENST00000524788.2:n.2019T>A
ENST00000524903.2:n.2135T>A
ENST00000528807.2:n.516T>A
ENST00000530040.2:n.480-184T>A
ENST00000533371.6:c.131T>A	ENSP00000437066.1:p.Ile44Asn
ENST00000642892.1:c.131T>A	ENSP00000494165.1:p.Ile44Asn
ENST00000643439.1:c.*600T>A	ENSP00000495849.1:n.*600T>A
ENST00000643479.1:n.889T>A
ENST00000643516.1:c.396-184T>A
ENST00000644151.1:n.2299T>A
ENST00000644218.1:c.860T>A	ENSP00000493574.1:p.Ile287Asn
ENST00000644683.1:c.*313T>A	ENSP00000494085.1:n.*313T>A
ENST00000644810.1:c.581T>A	ENSP00000495895.1:p.Ile194Asn
ENST00000644831.1:n.1036T>A
ENST00000644933.1:c.131T>A	ENSP00000496133.1:p.Ile44Asn
ENST00000645020.1:n.2150T>A
ENST00000645285.1:c.131T>A	ENSP00000495058.1:p.Ile44Asn
ENST00000645331.1:n.1226T>A
ENST00000645620.1:c.131T>A	ENSP00000493657.1:p.Ile44Asn
ENST00000646777.1:n.1036T>A
ENST00000647016.1:n.1340T>A
ENST00000647152.1:c.131T>A	ENSP00000495893.1:p.Ile44Asn
ENST00000647209.1:c.*729T>A	ENSP00000495558.1:n.*729T>A
ENST00000647346.1:n.1880T>A
ENST00000299427.10:c.860T>A	ENSP00000299427.6:p.Ile287Asn
ENST00000436873.6:c.451-184T>A	ENSP00000398136.2:n.451-184T>A
ENST00000528807.1:n.410T>A
ENST00000533371.5:c.131T>A	ENSP00000437066.1:p.Ile44Asn
ENST00000611494.4:c.860T>A	ENSP00000484546.1:p.Ile287Asn
NM_000391.3:c.860T>A	NP_000382.3:p.Ile287Asn
NM_000391.4:c.860T>A MANE Select	NP_000382.3:p.Ile287Asn