Canonical Allele Identifier: CA351203953
Gene: LRRFIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2060092118

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237763803A>T , CM000664.2:g.237763803A>T GRCh38
NC_000002.11:g.238672446A>T , CM000664.1:g.238672446A>T GRCh37
NC_000002.10:g.238337185A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698097.1:c.1181+3598A>T
ENST00000698098.1:c.955+3598A>T ENSP00000513562.1:n.955+3598A>T
ENST00000308482.14:c.1459+3598A>T MANE Select ENSP00000310109.9:n.1459+3598A>T
ENST00000244815.9:c.2018A>T ENSP00000244815.5:p.Asp673Val
ENST00000289175.10:c.1922A>T ENSP00000289175.6:p.Asp641Val
ENST00000308482.13:c.1459+3598A>T ENSP00000310109.9:n.1459+3598A>T
ENST00000392000.4:c.2090A>T ENSP00000375857.4:p.Asp697Val
ENST00000483443.1:n.235+3598A>T
NM_001137550.1:c.1459+3598A>T NP_001131022.1:n.1459+3598A>T
NM_001137551.1:c.721+3598A>T NP_001131023.1:n.721+3598A>T
NM_001137552.1:c.2090A>T NP_001131024.1:p.Asp697Val
NM_001137553.1:c.1922A>T NP_001131025.1:p.Asp641Val
NM_004735.3:c.2018A>T NP_004726.2:p.Asp673Val
XM_005246112.3:c.2723A>T XP_005246169.1:p.Asp908Val
XM_005246115.3:c.2678A>T XP_005246172.1:p.Asp893Val
XM_005246116.3:c.2660A>T XP_005246173.1:p.Asp887Val
XM_005246118.3:c.2615A>T XP_005246175.1:p.Asp872Val
XM_005246119.3:c.2612A>T XP_005246176.1:p.Asp871Val
XM_005246120.3:c.2576A>T XP_005246177.1:p.Asp859Val
XM_005246121.3:c.2561A>T XP_005246178.1:p.Asp854Val
XM_005246122.3:c.2549A>T XP_005246179.1:p.Asp850Val
XM_005246124.1:c.2531A>T XP_005246181.1:p.Asp844Val
XM_005246125.3:c.2510A>T XP_005246182.1:p.Asp837Val
XM_005246126.3:c.2471A>T XP_005246183.1:p.Asp824Val
XM_005246128.1:c.2438A>T XP_005246185.1:p.Asp813Val
XM_005246129.3:c.2399A>T XP_005246186.1:p.Asp800Val
XM_005246130.3:c.2372A>T XP_005246187.1:p.Asp791Val
XM_005246131.3:c.2285A>T XP_005246188.1:p.Asp762Val
XM_005246132.3:c.2210A>T XP_005246189.1:p.Asp737Val
XM_005246133.1:c.2180A>T XP_005246190.1:p.Asp727Val
XM_005246134.1:c.2138A>T XP_005246191.1:p.Asp713Val
XM_005246135.1:c.2108A>T XP_005246192.1:p.Asp703Val
XM_005246136.1:c.1952A>T XP_005246193.1:p.Asp651Val
XM_005246141.3:c.823+3598A>T XP_005246198.1:n.823+3598A>T
XM_005246142.1:c.751+3598A>T XP_005246199.1:n.751+3598A>T
XM_006712842.2:c.2621A>T XP_006712905.1:p.Asp874Val
XM_006712843.2:c.2516A>T XP_006712906.1:p.Asp839Val
XM_006712844.1:c.2450A>T XP_006712907.1:p.Asp817Val
XM_006712845.2:c.2432A>T XP_006712908.1:p.Asp811Val
XM_006712846.1:c.2336A>T XP_006712909.1:p.Asp779Val
XM_006712847.1:c.2276A>T XP_006712910.1:p.Asp759Val
XM_006712848.1:c.2204A>T XP_006712911.1:p.Asp735Val
XM_011512152.1:c.2756A>T XP_011510454.1:p.Asp919Val
XM_011512153.1:c.2738A>T XP_011510455.1:p.Asp913Val
XM_011512154.1:c.2726A>T XP_011510456.1:p.Asp909Val
XM_011512155.1:c.2717A>T XP_011510457.1:p.Asp906Val
XM_011512156.1:c.2684A>T XP_011510458.1:p.Asp895Val
XM_011512157.1:c.2570A>T XP_011510459.1:p.Asp857Val
XM_011512158.1:c.2498A>T XP_011510460.1:p.Asp833Val
XM_011512159.1:c.2306A>T XP_011510461.1:p.Asp769Val
XM_011512160.1:c.1555+3598A>T XP_011510462.1:n.1555+3598A>T
XM_011512161.1:c.1555+3598A>T XP_011510463.1:n.1555+3598A>T
XM_011512162.1:c.1369+3598A>T XP_011510464.1:n.1369+3598A>T
XM_011512163.1:c.1297+3598A>T XP_011510465.1:n.1297+3598A>T
XM_011512164.1:c.751+3598A>T XP_011510466.1:n.751+3598A>T
XM_011512165.1:c.721+3598A>T XP_011510467.1:n.721+3598A>T
XM_011512166.1:c.1516+3598A>T XP_011510468.1:n.1516+3598A>T
XR_923063.1:n.1605+3598A>T
XM_005246141.4:c.823+3598A>T XP_005246198.1:n.823+3598A>T
XM_005246142.2:c.751+3598A>T XP_005246199.1:n.751+3598A>T
XM_017005253.2:c.1522+3598A>T XP_016860742.1:n.1522+3598A>T
XM_017005254.2:c.1522+3598A>T XP_016860743.1:n.1522+3598A>T
XM_017005255.2:c.1450+3598A>T XP_016860744.1:n.1450+3598A>T
XM_017005256.2:c.1336+3598A>T XP_016860745.1:n.1336+3598A>T
XM_017005257.2:c.1387+3598A>T XP_016860746.1:n.1387+3598A>T
XM_017005258.2:c.1336+3598A>T XP_016860747.1:n.1336+3598A>T
XM_017005260.2:c.1162+3598A>T XP_016860749.1:n.1162+3598A>T
XM_017005261.2:c.1099+3598A>T XP_016860750.1:n.1099+3598A>T
XM_017005262.2:c.1099+3598A>T XP_016860751.1:n.1099+3598A>T
XM_017005263.2:c.937+3598A>T XP_016860752.1:n.937+3598A>T
XR_001739039.2:n.2792A>T
XR_001739040.1:n.2957A>T
XR_001739041.2:n.2753A>T
XR_001739042.2:n.2729A>T
XR_001739043.1:n.2705A>T
XR_001739044.2:n.2720A>T
XR_001739045.2:n.2690A>T
XR_001739046.1:n.3037A>T
XR_001739047.2:n.2606A>T
XR_001739048.1:n.2795A>T
XR_001739049.2:n.2540A>T
XR_001739050.2:n.2501A>T
XR_001739051.2:n.2468A>T
XR_001739052.2:n.2441A>T
XR_001739053.1:n.2430A>T
XR_001739054.1:n.2352A>T
XR_001739055.2:n.2369A>T
XR_001739056.2:n.2354A>T
XR_001739057.1:n.2370A>T
XR_001739058.1:n.2549A>T
XR_001739059.2:n.2282A>T
XR_001739060.1:n.2256A>T
XR_001739061.1:n.2298A>T
XR_001739062.1:n.2475A>T
XR_001739063.1:n.2182A>T
XR_001739064.1:n.2443A>T
XR_001739065.1:n.2387A>T
XR_001739066.1:n.2184A>T
XR_001739067.1:n.2091A>T
XR_001739068.1:n.2112A>T
XR_001739069.1:n.2289A>T
XR_001739070.1:n.2153A>T
XR_001739071.1:n.2011A>T
XR_001739072.1:n.2257A>T
XR_001739073.2:n.1591+3598A>T
XR_002959364.1:n.2183A>T
NM_001137550.2:c.1459+3598A>T MANE Select NP_001131022.1:n.1459+3598A>T
NM_001137552.2:c.2090A>T NP_001131024.1:p.Asp697Val
NM_001137553.2:c.1922A>T NP_001131025.1:p.Asp641Val
NM_004735.4:c.2018A>T NP_004726.2:p.Asp673Val
NM_001137551.2:c.721+3598A>T NP_001131023.1:n.721+3598A>T