Canonical Allele Identifier: CA319212

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207593
• ClinVar RCV Id: RCV000189792
• dbSNP Id: rs796053443
• MyVariant Identifiers: chr11:g.6636425T>G (hg19) ; chr11:g.6615194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615194T>G , CM000673.2:g.6615194T>G	GRCh38
NC_000011.9:g.6636425T>G , CM000673.1:g.6636425T>G	GRCh37
NC_000011.8:g.6593001T>G	NCBI36
NG_008653.1:g.9268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1288A>C	ENSP00000507321.1:p.Ile430Leu
ENST00000299427.12:c.1402A>C MANE Select	ENSP00000299427.6:p.Ile468Leu
ENST00000524611.2:n.262A>C
ENST00000524924.2:n.522A>C
ENST00000533371.6:c.673A>C	ENSP00000437066.1:p.Ile225Leu
ENST00000642892.1:c.673A>C	ENSP00000494165.1:p.Ile225Leu
ENST00000643342.1:c.475A>C
ENST00000643439.1:c.*1142A>C	ENSP00000495849.1:n.*1142A>C
ENST00000643479.1:n.1588A>C
ENST00000643516.1:c.911A>C
ENST00000644218.1:c.1213A>C	ENSP00000493574.1:p.Ile405Leu
ENST00000644683.1:c.*855A>C	ENSP00000494085.1:n.*855A>C
ENST00000644810.1:c.1123A>C	ENSP00000495895.1:p.Ile375Leu
ENST00000644831.1:n.1578A>C
ENST00000644933.1:c.*268A>C	ENSP00000496133.1:n.*268A>C
ENST00000645285.1:c.*268A>C	ENSP00000495058.1:n.*268A>C
ENST00000645331.1:n.2607A>C
ENST00000645620.1:c.673A>C	ENSP00000493657.1:p.Ile225Leu
ENST00000646691.1:n.1289A>C
ENST00000646777.1:n.1735A>C
ENST00000647016.1:n.1882A>C
ENST00000647152.1:c.673A>C	ENSP00000495893.1:p.Ile225Leu
ENST00000647209.1:c.*1271A>C	ENSP00000495558.1:n.*1271A>C
ENST00000647346.1:n.2422A>C
ENST00000299427.10:c.1402A>C	ENSP00000299427.6:p.Ile468Leu
ENST00000524611.1:n.280A>C
ENST00000533371.5:c.673A>C	ENSP00000437066.1:p.Ile225Leu
ENST00000611494.4:c.1402A>C	ENSP00000484546.1:p.Ile468Leu
NM_000391.3:c.1402A>C	NP_000382.3:p.Ile468Leu
NM_000391.4:c.1402A>C MANE Select	NP_000382.3:p.Ile468Leu