Canonical Allele Identifier: CA163446356
Community Standard Title: NM_001031692.3(LRRC17):c.683G>A (p.Gly228Glu)
Gene: FBXL13 HGNC NCBI
LRRC17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.102934596G>A , CM000669.2:g.102934596G>A GRCh38
NC_000007.13:g.102575043G>A , CM000669.1:g.102575043G>A GRCh37
NC_000007.12:g.102362279G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001031692.3:c.683G>A (LRRC17) MANE Select NP_001026862.1:p.Gly228Glu
NM_001394494.2:c.995-2663C>T (FBXL13) MANE Select NP_001381423.1:n.995-2663C>T
ENST00000339431.9:c.683G>A (LRRC17) MANE Select ENSP00000344242.4:p.Gly228Glu
ENST00000440067.4:c.995-2663C>T (FBXL13) MANE Select ENSP00000390126.2:n.995-2663C>T
NM_001031692.2:c.683G>A (LRRC17) NP_001026862.1:p.Gly228Glu
NM_001111038.1:c.725-2663C>T (FBXL13) NP_001104508.1:n.725-2663C>T
NM_001111038.2:c.725-2663C>T (FBXL13) NP_001104508.1:n.725-2663C>T
NM_001287150.1:c.725-2663C>T (FBXL13) NP_001274079.1:n.725-2663C>T
NM_001287150.2:c.725-2663C>T (FBXL13) NP_001274079.1:n.725-2663C>T
NM_005824.2:c.683G>A (LRRC17) NP_005815.2:p.Gly228Glu
NM_005824.3:c.683G>A (LRRC17) NP_005815.2:p.Gly228Glu
NM_145032.3:c.725-2663C>T (FBXL13) NP_659469.3:n.725-2663C>T
NR_105043.1:n.1066-2663C>T (FBXL13)
NR_105043.2:n.1021-2663C>T (FBXL13)
ENST00000249377.4:c.683G>A (LRRC17) ENSP00000249377.4:p.Gly228Glu
ENST00000313221.8:c.725-2663C>T (FBXL13) ENSP00000321927.4:n.725-2663C>T
ENST00000339431.8:c.683G>A (LRRC17) ENSP00000344242.4:p.Gly228Glu
ENST00000379305.7:c.725-2663C>T (FBXL13) ENSP00000368607.3:n.725-2663C>T
ENST00000379308.7:c.995-2663C>T (FBXL13) ENSP00000368610.4:n.995-2663C>T
ENST00000436908.5:c.725-2663C>T (FBXL13) ENSP00000388608.1:n.725-2663C>T
ENST00000448002.6:c.995-2663C>T (FBXL13) ENSP00000405434.2:n.995-2663C>T
ENST00000455112.6:c.725-2663C>T (FBXL13) ENSP00000391550.2:n.725-2663C>T
ENST00000455112.7:c.904-2663C>T (FBXL13) ENSP00000391550.3:n.904-2663C>T
ENST00000456695.5:c.725-2663C>T (FBXL13) ENSP00000409716.1:n.725-2663C>T
ENST00000456695.6:c.904-2663C>T (FBXL13) ENSP00000409716.2:n.904-2663C>T
ENST00000477915.5:n.300-8222C>T (FBXL13)
ENST00000694870.1:c.272-2663C>T (FBXL13) ENSP00000511553.1:n.272-2663C>T
ENST00000694871.1:c.272-2663C>T (FBXL13) ENSP00000511554.1:n.272-2663C>T
XM_005250108.1:c.683G>A (LRRC17) XP_005250165.1:p.Gly228Glu
XM_005250205.2:c.995-2663C>T (FBXL13) XP_005250262.1:n.995-2663C>T
XM_005250205.4:c.995-2663C>T (FBXL13) XP_005250262.1:n.995-2663C>T
XM_005250207.2:c.995-2663C>T (FBXL13) XP_005250264.1:n.995-2663C>T
XM_005250207.4:c.995-2663C>T (FBXL13) XP_005250264.1:n.995-2663C>T
XM_005250208.2:c.995-2663C>T (FBXL13) XP_005250265.1:n.995-2663C>T
XM_005250208.4:c.995-2663C>T (FBXL13) XP_005250265.1:n.995-2663C>T
XM_005250209.1:c.725-2663C>T (FBXL13) XP_005250266.1:n.725-2663C>T
XM_005250209.2:c.725-2663C>T (FBXL13) XP_005250266.1:n.725-2663C>T
XM_006715898.1:c.272-2663C>T (FBXL13) XP_006715961.1:n.272-2663C>T
XM_006715898.3:c.272-2663C>T (FBXL13) XP_006715961.1:n.272-2663C>T
XM_011515928.1:c.995-2663C>T (FBXL13) XP_011514230.1:n.995-2663C>T
XM_011515928.3:c.995-2663C>T (FBXL13) XP_011514230.1:n.995-2663C>T
XM_011515929.1:c.995-2663C>T (FBXL13) XP_011514231.1:n.995-2663C>T
XM_011515929.3:c.995-2663C>T (FBXL13) XP_011514231.1:n.995-2663C>T
XM_011515930.1:c.725-2663C>T (FBXL13) XP_011514232.1:n.725-2663C>T
XM_011515930.2:c.725-2663C>T (FBXL13) XP_011514232.1:n.725-2663C>T
XM_011515931.1:c.725-2663C>T (FBXL13) XP_011514233.1:n.725-2663C>T
XM_011515932.1:c.995-2663C>T (FBXL13) XP_011514234.1:n.995-2663C>T
XM_011515932.3:c.995-2663C>T (FBXL13) XP_011514234.1:n.995-2663C>T
XM_017011850.2:c.986-2663C>T (FBXL13) XP_016867339.1:n.986-2663C>T
XM_017011851.2:c.995-2663C>T (FBXL13) XP_016867340.1:n.995-2663C>T
XM_017011852.1:c.860-2663C>T (FBXL13) XP_016867341.1:n.860-2663C>T
XM_017011853.1:c.725-2663C>T (FBXL13) XP_016867342.1:n.725-2663C>T
XM_024446687.1:c.272-2663C>T (FBXL13) XP_024302455.1:n.272-2663C>T
XR_927406.1:n.998-2663C>T (FBXL13)
XR_927408.1:n.998-2663C>T (FBXL13)
XR_927408.3:n.1441-2663C>T (FBXL13)
XR_927409.1:n.998-2663C>T (FBXL13)
XR_927410.1:n.998-2663C>T (FBXL13)
XR_927410.3:n.1441-2663C>T (FBXL13)