Canonical Allele Identifier: CA2192290

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs138516108
• ExAC: 2:238672543 C / G
• gnomAD v2: 2-238672543-C-G
• gnomAD v4: 2-237763900-C-G
• MyVariant Identifiers: chr2:g.238672543C>G (hg19) ; chr2:g.237763900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763900C>G , CM000664.2:g.237763900C>G	GRCh38
NC_000002.11:g.238672543C>G , CM000664.1:g.238672543C>G	GRCh37
NC_000002.10:g.238337282C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3695C>G
ENST00000698098.1:c.955+3695C>G	ENSP00000513562.1:n.955+3695C>G
ENST00000308482.14:c.1459+3695C>G MANE Select	ENSP00000310109.9:n.1459+3695C>G
ENST00000244815.9:c.2115C>G	ENSP00000244815.5:p.Pro705=
ENST00000289175.10:c.2019C>G	ENSP00000289175.6:p.Pro673=
ENST00000308482.13:c.1459+3695C>G	ENSP00000310109.9:n.1459+3695C>G
ENST00000392000.4:c.2187C>G	ENSP00000375857.4:p.Pro729=
ENST00000483443.1:n.235+3695C>G
NM_001137550.1:c.1459+3695C>G	NP_001131022.1:n.1459+3695C>G
NM_001137551.1:c.721+3695C>G	NP_001131023.1:n.721+3695C>G
NM_001137552.1:c.2187C>G	NP_001131024.1:p.Pro729=
NM_001137553.1:c.2019C>G	NP_001131025.1:p.Pro673=
NM_004735.3:c.2115C>G	NP_004726.2:p.Pro705=
XM_005246112.3:c.2820C>G	XP_005246169.1:p.Pro940=
XM_005246115.3:c.2775C>G	XP_005246172.1:p.Pro925=
XM_005246116.3:c.2757C>G	XP_005246173.1:p.Pro919=
XM_005246118.3:c.2712C>G	XP_005246175.1:p.Pro904=
XM_005246119.3:c.2709C>G	XP_005246176.1:p.Pro903=
XM_005246120.3:c.2673C>G	XP_005246177.1:p.Pro891=
XM_005246121.3:c.2658C>G	XP_005246178.1:p.Pro886=
XM_005246122.3:c.2646C>G	XP_005246179.1:p.Pro882=
XM_005246124.1:c.2628C>G	XP_005246181.1:p.Pro876=
XM_005246125.3:c.2607C>G	XP_005246182.1:p.Pro869=
XM_005246126.3:c.2568C>G	XP_005246183.1:p.Pro856=
XM_005246128.1:c.2535C>G	XP_005246185.1:p.Pro845=
XM_005246129.3:c.2496C>G	XP_005246186.1:p.Pro832=
XM_005246130.3:c.2469C>G	XP_005246187.1:p.Pro823=
XM_005246131.3:c.2382C>G	XP_005246188.1:p.Pro794=
XM_005246132.3:c.2307C>G	XP_005246189.1:p.Pro769=
XM_005246133.1:c.2277C>G	XP_005246190.1:p.Pro759=
XM_005246134.1:c.2235C>G	XP_005246191.1:p.Pro745=
XM_005246135.1:c.2205C>G	XP_005246192.1:p.Pro735=
XM_005246136.1:c.2049C>G	XP_005246193.1:p.Pro683=
XM_005246141.3:c.823+3695C>G	XP_005246198.1:n.823+3695C>G
XM_005246142.1:c.751+3695C>G	XP_005246199.1:n.751+3695C>G
XM_006712842.2:c.2718C>G	XP_006712905.1:p.Pro906=
XM_006712843.2:c.2613C>G	XP_006712906.1:p.Pro871=
XM_006712844.1:c.2547C>G	XP_006712907.1:p.Pro849=
XM_006712845.2:c.2529C>G	XP_006712908.1:p.Pro843=
XM_006712846.1:c.2433C>G	XP_006712909.1:p.Pro811=
XM_006712847.1:c.2373C>G	XP_006712910.1:p.Pro791=
XM_006712848.1:c.2301C>G	XP_006712911.1:p.Pro767=
XM_011512152.1:c.2853C>G	XP_011510454.1:p.Pro951=
XM_011512153.1:c.2835C>G	XP_011510455.1:p.Pro945=
XM_011512154.1:c.2823C>G	XP_011510456.1:p.Pro941=
XM_011512155.1:c.2814C>G	XP_011510457.1:p.Pro938=
XM_011512156.1:c.2781C>G	XP_011510458.1:p.Pro927=
XM_011512157.1:c.2667C>G	XP_011510459.1:p.Pro889=
XM_011512158.1:c.2595C>G	XP_011510460.1:p.Pro865=
XM_011512159.1:c.2403C>G	XP_011510461.1:p.Pro801=
XM_011512160.1:c.1555+3695C>G	XP_011510462.1:n.1555+3695C>G
XM_011512161.1:c.1555+3695C>G	XP_011510463.1:n.1555+3695C>G
XM_011512162.1:c.1369+3695C>G	XP_011510464.1:n.1369+3695C>G
XM_011512163.1:c.1297+3695C>G	XP_011510465.1:n.1297+3695C>G
XM_011512164.1:c.751+3695C>G	XP_011510466.1:n.751+3695C>G
XM_011512165.1:c.721+3695C>G	XP_011510467.1:n.721+3695C>G
XM_011512166.1:c.1516+3695C>G	XP_011510468.1:n.1516+3695C>G
XR_923063.1:n.1605+3695C>G
XM_005246141.4:c.823+3695C>G	XP_005246198.1:n.823+3695C>G
XM_005246142.2:c.751+3695C>G	XP_005246199.1:n.751+3695C>G
XM_017005253.2:c.1522+3695C>G	XP_016860742.1:n.1522+3695C>G
XM_017005254.2:c.1522+3695C>G	XP_016860743.1:n.1522+3695C>G
XM_017005255.2:c.1450+3695C>G	XP_016860744.1:n.1450+3695C>G
XM_017005256.2:c.1336+3695C>G	XP_016860745.1:n.1336+3695C>G
XM_017005257.2:c.1387+3695C>G	XP_016860746.1:n.1387+3695C>G
XM_017005258.2:c.1336+3695C>G	XP_016860747.1:n.1336+3695C>G
XM_017005260.2:c.1162+3695C>G	XP_016860749.1:n.1162+3695C>G
XM_017005261.2:c.1099+3695C>G	XP_016860750.1:n.1099+3695C>G
XM_017005262.2:c.1099+3695C>G	XP_016860751.1:n.1099+3695C>G
XM_017005263.2:c.937+3695C>G	XP_016860752.1:n.937+3695C>G
XR_001739039.2:n.2889C>G
XR_001739040.1:n.3054C>G
XR_001739041.2:n.2850C>G
XR_001739042.2:n.2826C>G
XR_001739043.1:n.2802C>G
XR_001739044.2:n.2817C>G
XR_001739045.2:n.2787C>G
XR_001739046.1:n.3134C>G
XR_001739047.2:n.2703C>G
XR_001739048.1:n.2892C>G
XR_001739049.2:n.2637C>G
XR_001739050.2:n.2598C>G
XR_001739051.2:n.2565C>G
XR_001739052.2:n.2538C>G
XR_001739053.1:n.2527C>G
XR_001739054.1:n.2449C>G
XR_001739055.2:n.2466C>G
XR_001739056.2:n.2451C>G
XR_001739057.1:n.2467C>G
XR_001739058.1:n.2646C>G
XR_001739059.2:n.2379C>G
XR_001739060.1:n.2353C>G
XR_001739061.1:n.2395C>G
XR_001739062.1:n.2572C>G
XR_001739063.1:n.2279C>G
XR_001739064.1:n.2540C>G
XR_001739065.1:n.2484C>G
XR_001739066.1:n.2281C>G
XR_001739067.1:n.2188C>G
XR_001739068.1:n.2209C>G
XR_001739069.1:n.2386C>G
XR_001739070.1:n.2250C>G
XR_001739071.1:n.2108C>G
XR_001739072.1:n.2354C>G
XR_001739073.2:n.1591+3695C>G
XR_002959364.1:n.2280C>G
NM_001137550.2:c.1459+3695C>G MANE Select	NP_001131022.1:n.1459+3695C>G
NM_001137552.2:c.2187C>G	NP_001131024.1:p.Pro729=
NM_001137553.2:c.2019C>G	NP_001131025.1:p.Pro673=
NM_004735.4:c.2115C>G	NP_004726.2:p.Pro705=
NM_001137551.2:c.721+3695C>G	NP_001131023.1:n.721+3695C>G