Canonical Allele Identifier: CA351719363
Gene: TTLL3 HGNC NCBI
ARPC4-TTLL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3129788
ClinVar RCV Id: RCV004418133
dbSNP Id: rs772210104

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9829384A>G , CM000665.2:g.9829384A>G GRCh38
NC_000003.11:g.9871068A>G , CM000665.1:g.9871068A>G GRCh37
NC_000003.10:g.9846068A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000703870.1:c.1672A>G (TTLL3) ENSP00000515513.1:p.Ile558Val
ENST00000426895.10:c.1543A>G (TTLL3) ENSP00000392549.5:p.Ile515Val
ENST00000685419.1:c.1672A>G (TTLL3) MANE Select ENSP00000510679.1:p.Ile558Val
ENST00000426895.9:c.1972A>G (TTLL3) ENSP00000392549.4:p.Ile658Val
ENST00000310252.11:c.1409A>G (TTLL3)
ENST00000383827.5:c.907A>G (TTLL3) ENSP00000373338.1:p.Ile303Val
ENST00000397256.5:c.1726A>G (ARPC4-TTLL3) ENSP00000380427.1:p.Ile576Val
ENST00000426895.8:c.1972A>G (TTLL3) ENSP00000392549.4:p.Ile658Val
ENST00000427220.5:c.*1159A>G (TTLL3) ENSP00000395912.1:n.*1159A>G
ENST00000430390.5:c.1125A>G (TTLL3)
ENST00000430793.1:c.907A>G (TTLL3) ENSP00000403874.1:p.Ile303Val
ENST00000438141.5:c.907A>G (TTLL3) ENSP00000409246.1:p.Ile303Val
ENST00000443148.5:c.1357A>G (TTLL3) ENSP00000398097.1:p.Ile453Val
ENST00000455274.5:c.907A>G (TTLL3) ENSP00000409632.1:p.Ile303Val
ENST00000471058.1:c.222A>G (TTLL3)
ENST00000473661.5:c.*438A>G (TTLL3) ENSP00000430051.1:n.*438A>G
ENST00000483051.5:n.2388A>G (TTLL3)
ENST00000496526.5:n.4515A>G (TTLL3)
NM_001025930.3:c.1972A>G (TTLL3) NP_001021100.3:p.Ile658Val
NM_001198793.1:c.1726A>G (ARPC4-TTLL3) NP_001185722.1:p.Ile576Val
NR_037162.1:n.2473A>G (TTLL3)
NM_001025930.4:c.1972A>G (TTLL3) NP_001021100.3:p.Ile658Val
NM_001366051.1:c.1543A>G (TTLL3) NP_001352980.1:p.Ile515Val
NM_001025930.5:c.1972A>G (TTLL3) NP_001021100.3:p.Ile658Val
NM_001366051.2:c.1543A>G (TTLL3) NP_001352980.1:p.Ile515Val
NR_037162.2:n.2171A>G (TTLL3)
NM_001387446.1:c.1672A>G (TTLL3) MANE Select NP_001374375.1:p.Ile558Val
NM_001387447.1:c.1504A>G (TTLL3) NP_001374376.1:p.Ile502Val
NM_001387448.1:c.1543A>G (TTLL3) NP_001374377.1:p.Ile515Val
NM_001387449.1:c.1543A>G (TTLL3) NP_001374378.1:p.Ile515Val
NM_001387450.1:c.1717A>G (TTLL3) NP_001374379.1:p.Ile573Val
NM_001387451.1:c.1573A>G (TTLL3) NP_001374380.1:p.Ile525Val
NM_001387452.1:c.1444A>G (TTLL3) NP_001374381.1:p.Ile482Val
NM_001387453.1:c.1444A>G (TTLL3) NP_001374382.1:p.Ile482Val
NM_001387454.1:c.1672A>G (TTLL3) NP_001374383.1:p.Ile558Val
NM_001387455.1:c.1672A>G (TTLL3) NP_001374384.1:p.Ile558Val
NM_001387456.1:c.1672A>G (TTLL3) NP_001374385.1:p.Ile558Val
NM_001387457.1:c.1504A>G (TTLL3) NP_001374386.1:p.Ile502Val
NM_001387458.1:c.1444A>G (TTLL3) NP_001374387.1:p.Ile482Val
NM_001387459.1:c.1573A>G (TTLL3) NP_001374388.1:p.Ile525Val
NM_001387460.1:c.1573A>G (TTLL3) NP_001374389.1:p.Ile525Val
NM_001387461.1:c.1543A>G (TTLL3) NP_001374390.1:p.Ile515Val
NM_001387462.1:c.1540A>G (TTLL3) NP_001374391.1:p.Ile514Val
NM_001387463.1:c.1444A>G (TTLL3) NP_001374392.1:p.Ile482Val
NM_001387464.1:c.1405A>G (TTLL3) NP_001374393.1:p.Ile469Val
NM_001387465.1:c.1405A>G (TTLL3) NP_001374394.1:p.Ile469Val
NM_001387466.1:c.1180A>G (TTLL3) NP_001374395.1:p.Ile394Val
NM_001387467.1:c.907A>G (TTLL3) NP_001374396.1:p.Ile303Val
NR_170661.1:n.1589A>G (TTLL3)
NR_170662.1:n.1262A>G (TTLL3)
NR_170663.1:n.1307A>G (TTLL3)
NR_170664.1:n.1469A>G (TTLL3)
NR_170665.1:n.1503A>G (TTLL3)