Canonical Allele Identifier: CA252381
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2648
ClinVar RCV Id: RCV000002767 RCV001851588
dbSNP Id: rs119455958
gnomAD v2: 11-6637921-T-C
MyVariant Identifiers: chr11:g.6637921T>C (hg19) chr11:g.6616690T>C (hg38)
PubMed: PMID:12376936 PMID:14736728
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616690T>C , CM000673.2:g.6616690T>C GRCh38
NC_000011.9:g.6637921T>C , CM000673.1:g.6637921T>C GRCh37
NC_000011.8:g.6594497T>C NCBI36
NG_008653.1:g.7772A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.743A>G ENSP00000507321.1:p.Asn248Ser
ENST00000299427.12:c.857A>G MANE Select ENSP00000299427.6:p.Asn286Ser
ENST00000436873.7:c.312+611A>G
ENST00000524788.2:n.2016A>G
ENST00000524903.2:n.2132A>G
ENST00000528807.2:n.513A>G
ENST00000530040.2:n.480-187A>G
ENST00000533371.6:c.128A>G ENSP00000437066.1:p.Asn43Ser
ENST00000642892.1:c.128A>G ENSP00000494165.1:p.Asn43Ser
ENST00000643439.1:c.*597A>G ENSP00000495849.1:n.*597A>G
ENST00000643479.1:n.886A>G
ENST00000643516.1:c.396-187A>G
ENST00000644151.1:n.2296A>G
ENST00000644218.1:c.857A>G ENSP00000493574.1:p.Asn286Ser
ENST00000644683.1:c.*310A>G ENSP00000494085.1:n.*310A>G
ENST00000644810.1:c.578A>G ENSP00000495895.1:p.Asn193Ser
ENST00000644831.1:n.1033A>G
ENST00000644933.1:c.128A>G ENSP00000496133.1:p.Asn43Ser
ENST00000645020.1:n.2147A>G
ENST00000645285.1:c.128A>G ENSP00000495058.1:p.Asn43Ser
ENST00000645331.1:n.1223A>G
ENST00000645620.1:c.128A>G ENSP00000493657.1:p.Asn43Ser
ENST00000646777.1:n.1033A>G
ENST00000647016.1:n.1337A>G
ENST00000647152.1:c.128A>G ENSP00000495893.1:p.Asn43Ser
ENST00000647209.1:c.*726A>G ENSP00000495558.1:n.*726A>G
ENST00000647346.1:n.1877A>G
ENST00000299427.10:c.857A>G ENSP00000299427.6:p.Asn286Ser
ENST00000436873.6:c.451-187A>G ENSP00000398136.2:n.451-187A>G
ENST00000528807.1:n.407A>G
ENST00000533371.5:c.128A>G ENSP00000437066.1:p.Asn43Ser
ENST00000611494.4:c.857A>G ENSP00000484546.1:p.Asn286Ser
NM_000391.3:c.857A>G NP_000382.3:p.Asn286Ser
NM_000391.4:c.857A>G MANE Select NP_000382.3:p.Asn286Ser
Search 100 bp 5'
Search 100 bp 3'