Canonical Allele Identifier: CA351204590

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672539T>G (hg19) ; chr2:g.237763896T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763896T>G , CM000664.2:g.237763896T>G	GRCh38
NC_000002.11:g.238672539T>G , CM000664.1:g.238672539T>G	GRCh37
NC_000002.10:g.238337278T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3691T>G
ENST00000698098.1:c.955+3691T>G	ENSP00000513562.1:n.955+3691T>G
ENST00000308482.14:c.1459+3691T>G MANE Select	ENSP00000310109.9:n.1459+3691T>G
ENST00000244815.9:c.2111T>G	ENSP00000244815.5:p.Leu704Arg
ENST00000289175.10:c.2015T>G	ENSP00000289175.6:p.Leu672Arg
ENST00000308482.13:c.1459+3691T>G	ENSP00000310109.9:n.1459+3691T>G
ENST00000392000.4:c.2183T>G	ENSP00000375857.4:p.Leu728Arg
ENST00000483443.1:n.235+3691T>G
NM_001137550.1:c.1459+3691T>G	NP_001131022.1:n.1459+3691T>G
NM_001137551.1:c.721+3691T>G	NP_001131023.1:n.721+3691T>G
NM_001137552.1:c.2183T>G	NP_001131024.1:p.Leu728Arg
NM_001137553.1:c.2015T>G	NP_001131025.1:p.Leu672Arg
NM_004735.3:c.2111T>G	NP_004726.2:p.Leu704Arg
XM_005246112.3:c.2816T>G	XP_005246169.1:p.Leu939Arg
XM_005246115.3:c.2771T>G	XP_005246172.1:p.Leu924Arg
XM_005246116.3:c.2753T>G	XP_005246173.1:p.Leu918Arg
XM_005246118.3:c.2708T>G	XP_005246175.1:p.Leu903Arg
XM_005246119.3:c.2705T>G	XP_005246176.1:p.Leu902Arg
XM_005246120.3:c.2669T>G	XP_005246177.1:p.Leu890Arg
XM_005246121.3:c.2654T>G	XP_005246178.1:p.Leu885Arg
XM_005246122.3:c.2642T>G	XP_005246179.1:p.Leu881Arg
XM_005246124.1:c.2624T>G	XP_005246181.1:p.Leu875Arg
XM_005246125.3:c.2603T>G	XP_005246182.1:p.Leu868Arg
XM_005246126.3:c.2564T>G	XP_005246183.1:p.Leu855Arg
XM_005246128.1:c.2531T>G	XP_005246185.1:p.Leu844Arg
XM_005246129.3:c.2492T>G	XP_005246186.1:p.Leu831Arg
XM_005246130.3:c.2465T>G	XP_005246187.1:p.Leu822Arg
XM_005246131.3:c.2378T>G	XP_005246188.1:p.Leu793Arg
XM_005246132.3:c.2303T>G	XP_005246189.1:p.Leu768Arg
XM_005246133.1:c.2273T>G	XP_005246190.1:p.Leu758Arg
XM_005246134.1:c.2231T>G	XP_005246191.1:p.Leu744Arg
XM_005246135.1:c.2201T>G	XP_005246192.1:p.Leu734Arg
XM_005246136.1:c.2045T>G	XP_005246193.1:p.Leu682Arg
XM_005246141.3:c.823+3691T>G	XP_005246198.1:n.823+3691T>G
XM_005246142.1:c.751+3691T>G	XP_005246199.1:n.751+3691T>G
XM_006712842.2:c.2714T>G	XP_006712905.1:p.Leu905Arg
XM_006712843.2:c.2609T>G	XP_006712906.1:p.Leu870Arg
XM_006712844.1:c.2543T>G	XP_006712907.1:p.Leu848Arg
XM_006712845.2:c.2525T>G	XP_006712908.1:p.Leu842Arg
XM_006712846.1:c.2429T>G	XP_006712909.1:p.Leu810Arg
XM_006712847.1:c.2369T>G	XP_006712910.1:p.Leu790Arg
XM_006712848.1:c.2297T>G	XP_006712911.1:p.Leu766Arg
XM_011512152.1:c.2849T>G	XP_011510454.1:p.Leu950Arg
XM_011512153.1:c.2831T>G	XP_011510455.1:p.Leu944Arg
XM_011512154.1:c.2819T>G	XP_011510456.1:p.Leu940Arg
XM_011512155.1:c.2810T>G	XP_011510457.1:p.Leu937Arg
XM_011512156.1:c.2777T>G	XP_011510458.1:p.Leu926Arg
XM_011512157.1:c.2663T>G	XP_011510459.1:p.Leu888Arg
XM_011512158.1:c.2591T>G	XP_011510460.1:p.Leu864Arg
XM_011512159.1:c.2399T>G	XP_011510461.1:p.Leu800Arg
XM_011512160.1:c.1555+3691T>G	XP_011510462.1:n.1555+3691T>G
XM_011512161.1:c.1555+3691T>G	XP_011510463.1:n.1555+3691T>G
XM_011512162.1:c.1369+3691T>G	XP_011510464.1:n.1369+3691T>G
XM_011512163.1:c.1297+3691T>G	XP_011510465.1:n.1297+3691T>G
XM_011512164.1:c.751+3691T>G	XP_011510466.1:n.751+3691T>G
XM_011512165.1:c.721+3691T>G	XP_011510467.1:n.721+3691T>G
XM_011512166.1:c.1516+3691T>G	XP_011510468.1:n.1516+3691T>G
XR_923063.1:n.1605+3691T>G
XM_005246141.4:c.823+3691T>G	XP_005246198.1:n.823+3691T>G
XM_005246142.2:c.751+3691T>G	XP_005246199.1:n.751+3691T>G
XM_017005253.2:c.1522+3691T>G	XP_016860742.1:n.1522+3691T>G
XM_017005254.2:c.1522+3691T>G	XP_016860743.1:n.1522+3691T>G
XM_017005255.2:c.1450+3691T>G	XP_016860744.1:n.1450+3691T>G
XM_017005256.2:c.1336+3691T>G	XP_016860745.1:n.1336+3691T>G
XM_017005257.2:c.1387+3691T>G	XP_016860746.1:n.1387+3691T>G
XM_017005258.2:c.1336+3691T>G	XP_016860747.1:n.1336+3691T>G
XM_017005260.2:c.1162+3691T>G	XP_016860749.1:n.1162+3691T>G
XM_017005261.2:c.1099+3691T>G	XP_016860750.1:n.1099+3691T>G
XM_017005262.2:c.1099+3691T>G	XP_016860751.1:n.1099+3691T>G
XM_017005263.2:c.937+3691T>G	XP_016860752.1:n.937+3691T>G
XR_001739039.2:n.2885T>G
XR_001739040.1:n.3050T>G
XR_001739041.2:n.2846T>G
XR_001739042.2:n.2822T>G
XR_001739043.1:n.2798T>G
XR_001739044.2:n.2813T>G
XR_001739045.2:n.2783T>G
XR_001739046.1:n.3130T>G
XR_001739047.2:n.2699T>G
XR_001739048.1:n.2888T>G
XR_001739049.2:n.2633T>G
XR_001739050.2:n.2594T>G
XR_001739051.2:n.2561T>G
XR_001739052.2:n.2534T>G
XR_001739053.1:n.2523T>G
XR_001739054.1:n.2445T>G
XR_001739055.2:n.2462T>G
XR_001739056.2:n.2447T>G
XR_001739057.1:n.2463T>G
XR_001739058.1:n.2642T>G
XR_001739059.2:n.2375T>G
XR_001739060.1:n.2349T>G
XR_001739061.1:n.2391T>G
XR_001739062.1:n.2568T>G
XR_001739063.1:n.2275T>G
XR_001739064.1:n.2536T>G
XR_001739065.1:n.2480T>G
XR_001739066.1:n.2277T>G
XR_001739067.1:n.2184T>G
XR_001739068.1:n.2205T>G
XR_001739069.1:n.2382T>G
XR_001739070.1:n.2246T>G
XR_001739071.1:n.2104T>G
XR_001739072.1:n.2350T>G
XR_001739073.2:n.1591+3691T>G
XR_002959364.1:n.2276T>G
NM_001137550.2:c.1459+3691T>G MANE Select	NP_001131022.1:n.1459+3691T>G
NM_001137552.2:c.2183T>G	NP_001131024.1:p.Leu728Arg
NM_001137553.2:c.2015T>G	NP_001131025.1:p.Leu672Arg
NM_004735.4:c.2111T>G	NP_004726.2:p.Leu704Arg
NM_001137551.2:c.721+3691T>G	NP_001131023.1:n.721+3691T>G