Canonical Allele Identifier: CA2192287

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs760481039
• ExAC: 2:238672529 C / A
• gnomAD v2: 2-238672529-C-A
• gnomAD v4: 2-237763886-C-A
• MyVariant Identifiers: chr2:g.238672529C>A (hg19) ; chr2:g.237763886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763886C>A , CM000664.2:g.237763886C>A	GRCh38
NC_000002.11:g.238672529C>A , CM000664.1:g.238672529C>A	GRCh37
NC_000002.10:g.238337268C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3681C>A
ENST00000698098.1:c.955+3681C>A	ENSP00000513562.1:n.955+3681C>A
ENST00000308482.14:c.1459+3681C>A MANE Select	ENSP00000310109.9:n.1459+3681C>A
ENST00000244815.9:c.2101C>A	ENSP00000244815.5:p.Arg701Ser
ENST00000289175.10:c.2005C>A	ENSP00000289175.6:p.Arg669Ser
ENST00000308482.13:c.1459+3681C>A	ENSP00000310109.9:n.1459+3681C>A
ENST00000392000.4:c.2173C>A	ENSP00000375857.4:p.Arg725Ser
ENST00000483443.1:n.235+3681C>A
NM_001137550.1:c.1459+3681C>A	NP_001131022.1:n.1459+3681C>A
NM_001137551.1:c.721+3681C>A	NP_001131023.1:n.721+3681C>A
NM_001137552.1:c.2173C>A	NP_001131024.1:p.Arg725Ser
NM_001137553.1:c.2005C>A	NP_001131025.1:p.Arg669Ser
NM_004735.3:c.2101C>A	NP_004726.2:p.Arg701Ser
XM_005246112.3:c.2806C>A	XP_005246169.1:p.Arg936Ser
XM_005246115.3:c.2761C>A	XP_005246172.1:p.Arg921Ser
XM_005246116.3:c.2743C>A	XP_005246173.1:p.Arg915Ser
XM_005246118.3:c.2698C>A	XP_005246175.1:p.Arg900Ser
XM_005246119.3:c.2695C>A	XP_005246176.1:p.Arg899Ser
XM_005246120.3:c.2659C>A	XP_005246177.1:p.Arg887Ser
XM_005246121.3:c.2644C>A	XP_005246178.1:p.Arg882Ser
XM_005246122.3:c.2632C>A	XP_005246179.1:p.Arg878Ser
XM_005246124.1:c.2614C>A	XP_005246181.1:p.Arg872Ser
XM_005246125.3:c.2593C>A	XP_005246182.1:p.Arg865Ser
XM_005246126.3:c.2554C>A	XP_005246183.1:p.Arg852Ser
XM_005246128.1:c.2521C>A	XP_005246185.1:p.Arg841Ser
XM_005246129.3:c.2482C>A	XP_005246186.1:p.Arg828Ser
XM_005246130.3:c.2455C>A	XP_005246187.1:p.Arg819Ser
XM_005246131.3:c.2368C>A	XP_005246188.1:p.Arg790Ser
XM_005246132.3:c.2293C>A	XP_005246189.1:p.Arg765Ser
XM_005246133.1:c.2263C>A	XP_005246190.1:p.Arg755Ser
XM_005246134.1:c.2221C>A	XP_005246191.1:p.Arg741Ser
XM_005246135.1:c.2191C>A	XP_005246192.1:p.Arg731Ser
XM_005246136.1:c.2035C>A	XP_005246193.1:p.Arg679Ser
XM_005246141.3:c.823+3681C>A	XP_005246198.1:n.823+3681C>A
XM_005246142.1:c.751+3681C>A	XP_005246199.1:n.751+3681C>A
XM_006712842.2:c.2704C>A	XP_006712905.1:p.Arg902Ser
XM_006712843.2:c.2599C>A	XP_006712906.1:p.Arg867Ser
XM_006712844.1:c.2533C>A	XP_006712907.1:p.Arg845Ser
XM_006712845.2:c.2515C>A	XP_006712908.1:p.Arg839Ser
XM_006712846.1:c.2419C>A	XP_006712909.1:p.Arg807Ser
XM_006712847.1:c.2359C>A	XP_006712910.1:p.Arg787Ser
XM_006712848.1:c.2287C>A	XP_006712911.1:p.Arg763Ser
XM_011512152.1:c.2839C>A	XP_011510454.1:p.Arg947Ser
XM_011512153.1:c.2821C>A	XP_011510455.1:p.Arg941Ser
XM_011512154.1:c.2809C>A	XP_011510456.1:p.Arg937Ser
XM_011512155.1:c.2800C>A	XP_011510457.1:p.Arg934Ser
XM_011512156.1:c.2767C>A	XP_011510458.1:p.Arg923Ser
XM_011512157.1:c.2653C>A	XP_011510459.1:p.Arg885Ser
XM_011512158.1:c.2581C>A	XP_011510460.1:p.Arg861Ser
XM_011512159.1:c.2389C>A	XP_011510461.1:p.Arg797Ser
XM_011512160.1:c.1555+3681C>A	XP_011510462.1:n.1555+3681C>A
XM_011512161.1:c.1555+3681C>A	XP_011510463.1:n.1555+3681C>A
XM_011512162.1:c.1369+3681C>A	XP_011510464.1:n.1369+3681C>A
XM_011512163.1:c.1297+3681C>A	XP_011510465.1:n.1297+3681C>A
XM_011512164.1:c.751+3681C>A	XP_011510466.1:n.751+3681C>A
XM_011512165.1:c.721+3681C>A	XP_011510467.1:n.721+3681C>A
XM_011512166.1:c.1516+3681C>A	XP_011510468.1:n.1516+3681C>A
XR_923063.1:n.1605+3681C>A
XM_005246141.4:c.823+3681C>A	XP_005246198.1:n.823+3681C>A
XM_005246142.2:c.751+3681C>A	XP_005246199.1:n.751+3681C>A
XM_017005253.2:c.1522+3681C>A	XP_016860742.1:n.1522+3681C>A
XM_017005254.2:c.1522+3681C>A	XP_016860743.1:n.1522+3681C>A
XM_017005255.2:c.1450+3681C>A	XP_016860744.1:n.1450+3681C>A
XM_017005256.2:c.1336+3681C>A	XP_016860745.1:n.1336+3681C>A
XM_017005257.2:c.1387+3681C>A	XP_016860746.1:n.1387+3681C>A
XM_017005258.2:c.1336+3681C>A	XP_016860747.1:n.1336+3681C>A
XM_017005260.2:c.1162+3681C>A	XP_016860749.1:n.1162+3681C>A
XM_017005261.2:c.1099+3681C>A	XP_016860750.1:n.1099+3681C>A
XM_017005262.2:c.1099+3681C>A	XP_016860751.1:n.1099+3681C>A
XM_017005263.2:c.937+3681C>A	XP_016860752.1:n.937+3681C>A
XR_001739039.2:n.2875C>A
XR_001739040.1:n.3040C>A
XR_001739041.2:n.2836C>A
XR_001739042.2:n.2812C>A
XR_001739043.1:n.2788C>A
XR_001739044.2:n.2803C>A
XR_001739045.2:n.2773C>A
XR_001739046.1:n.3120C>A
XR_001739047.2:n.2689C>A
XR_001739048.1:n.2878C>A
XR_001739049.2:n.2623C>A
XR_001739050.2:n.2584C>A
XR_001739051.2:n.2551C>A
XR_001739052.2:n.2524C>A
XR_001739053.1:n.2513C>A
XR_001739054.1:n.2435C>A
XR_001739055.2:n.2452C>A
XR_001739056.2:n.2437C>A
XR_001739057.1:n.2453C>A
XR_001739058.1:n.2632C>A
XR_001739059.2:n.2365C>A
XR_001739060.1:n.2339C>A
XR_001739061.1:n.2381C>A
XR_001739062.1:n.2558C>A
XR_001739063.1:n.2265C>A
XR_001739064.1:n.2526C>A
XR_001739065.1:n.2470C>A
XR_001739066.1:n.2267C>A
XR_001739067.1:n.2174C>A
XR_001739068.1:n.2195C>A
XR_001739069.1:n.2372C>A
XR_001739070.1:n.2236C>A
XR_001739071.1:n.2094C>A
XR_001739072.1:n.2340C>A
XR_001739073.2:n.1591+3681C>A
XR_002959364.1:n.2266C>A
NM_001137550.2:c.1459+3681C>A MANE Select	NP_001131022.1:n.1459+3681C>A
NM_001137552.2:c.2173C>A	NP_001131024.1:p.Arg725Ser
NM_001137553.2:c.2005C>A	NP_001131025.1:p.Arg669Ser
NM_004735.4:c.2101C>A	NP_004726.2:p.Arg701Ser
NM_001137551.2:c.721+3681C>A	NP_001131023.1:n.721+3681C>A