Canonical Allele Identifier: CA431937247
Gene: LRRFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.238672537C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237763894C>T , CM000664.2:g.237763894C>T GRCh38
NC_000002.11:g.238672537C>T , CM000664.1:g.238672537C>T GRCh37
NC_000002.10:g.238337276C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698097.1:c.1181+3689C>T
ENST00000698098.1:c.955+3689C>T ENSP00000513562.1:n.955+3689C>T
ENST00000308482.14:c.1459+3689C>T MANE Select ENSP00000310109.9:n.1459+3689C>T
ENST00000244815.9:c.2109C>T ENSP00000244815.5:p.Thr703=
ENST00000289175.10:c.2013C>T ENSP00000289175.6:p.Thr671=
ENST00000308482.13:c.1459+3689C>T ENSP00000310109.9:n.1459+3689C>T
ENST00000392000.4:c.2181C>T ENSP00000375857.4:p.Thr727=
ENST00000483443.1:n.235+3689C>T
NM_001137550.1:c.1459+3689C>T NP_001131022.1:n.1459+3689C>T
NM_001137551.1:c.721+3689C>T NP_001131023.1:n.721+3689C>T
NM_001137552.1:c.2181C>T NP_001131024.1:p.Thr727=
NM_001137553.1:c.2013C>T NP_001131025.1:p.Thr671=
NM_004735.3:c.2109C>T NP_004726.2:p.Thr703=
XM_005246112.3:c.2814C>T XP_005246169.1:p.Thr938=
XM_005246115.3:c.2769C>T XP_005246172.1:p.Thr923=
XM_005246116.3:c.2751C>T XP_005246173.1:p.Thr917=
XM_005246118.3:c.2706C>T XP_005246175.1:p.Thr902=
XM_005246119.3:c.2703C>T XP_005246176.1:p.Thr901=
XM_005246120.3:c.2667C>T XP_005246177.1:p.Thr889=
XM_005246121.3:c.2652C>T XP_005246178.1:p.Thr884=
XM_005246122.3:c.2640C>T XP_005246179.1:p.Thr880=
XM_005246124.1:c.2622C>T XP_005246181.1:p.Thr874=
XM_005246125.3:c.2601C>T XP_005246182.1:p.Thr867=
XM_005246126.3:c.2562C>T XP_005246183.1:p.Thr854=
XM_005246128.1:c.2529C>T XP_005246185.1:p.Thr843=
XM_005246129.3:c.2490C>T XP_005246186.1:p.Thr830=
XM_005246130.3:c.2463C>T XP_005246187.1:p.Thr821=
XM_005246131.3:c.2376C>T XP_005246188.1:p.Thr792=
XM_005246132.3:c.2301C>T XP_005246189.1:p.Thr767=
XM_005246133.1:c.2271C>T XP_005246190.1:p.Thr757=
XM_005246134.1:c.2229C>T XP_005246191.1:p.Thr743=
XM_005246135.1:c.2199C>T XP_005246192.1:p.Thr733=
XM_005246136.1:c.2043C>T XP_005246193.1:p.Thr681=
XM_005246141.3:c.823+3689C>T XP_005246198.1:n.823+3689C>T
XM_005246142.1:c.751+3689C>T XP_005246199.1:n.751+3689C>T
XM_006712842.2:c.2712C>T XP_006712905.1:p.Thr904=
XM_006712843.2:c.2607C>T XP_006712906.1:p.Thr869=
XM_006712844.1:c.2541C>T XP_006712907.1:p.Thr847=
XM_006712845.2:c.2523C>T XP_006712908.1:p.Thr841=
XM_006712846.1:c.2427C>T XP_006712909.1:p.Thr809=
XM_006712847.1:c.2367C>T XP_006712910.1:p.Thr789=
XM_006712848.1:c.2295C>T XP_006712911.1:p.Thr765=
XM_011512152.1:c.2847C>T XP_011510454.1:p.Thr949=
XM_011512153.1:c.2829C>T XP_011510455.1:p.Thr943=
XM_011512154.1:c.2817C>T XP_011510456.1:p.Thr939=
XM_011512155.1:c.2808C>T XP_011510457.1:p.Thr936=
XM_011512156.1:c.2775C>T XP_011510458.1:p.Thr925=
XM_011512157.1:c.2661C>T XP_011510459.1:p.Thr887=
XM_011512158.1:c.2589C>T XP_011510460.1:p.Thr863=
XM_011512159.1:c.2397C>T XP_011510461.1:p.Thr799=
XM_011512160.1:c.1555+3689C>T XP_011510462.1:n.1555+3689C>T
XM_011512161.1:c.1555+3689C>T XP_011510463.1:n.1555+3689C>T
XM_011512162.1:c.1369+3689C>T XP_011510464.1:n.1369+3689C>T
XM_011512163.1:c.1297+3689C>T XP_011510465.1:n.1297+3689C>T
XM_011512164.1:c.751+3689C>T XP_011510466.1:n.751+3689C>T
XM_011512165.1:c.721+3689C>T XP_011510467.1:n.721+3689C>T
XM_011512166.1:c.1516+3689C>T XP_011510468.1:n.1516+3689C>T
XR_923063.1:n.1605+3689C>T
XM_005246141.4:c.823+3689C>T XP_005246198.1:n.823+3689C>T
XM_005246142.2:c.751+3689C>T XP_005246199.1:n.751+3689C>T
XM_017005253.2:c.1522+3689C>T XP_016860742.1:n.1522+3689C>T
XM_017005254.2:c.1522+3689C>T XP_016860743.1:n.1522+3689C>T
XM_017005255.2:c.1450+3689C>T XP_016860744.1:n.1450+3689C>T
XM_017005256.2:c.1336+3689C>T XP_016860745.1:n.1336+3689C>T
XM_017005257.2:c.1387+3689C>T XP_016860746.1:n.1387+3689C>T
XM_017005258.2:c.1336+3689C>T XP_016860747.1:n.1336+3689C>T
XM_017005260.2:c.1162+3689C>T XP_016860749.1:n.1162+3689C>T
XM_017005261.2:c.1099+3689C>T XP_016860750.1:n.1099+3689C>T
XM_017005262.2:c.1099+3689C>T XP_016860751.1:n.1099+3689C>T
XM_017005263.2:c.937+3689C>T XP_016860752.1:n.937+3689C>T
XR_001739039.2:n.2883C>T
XR_001739040.1:n.3048C>T
XR_001739041.2:n.2844C>T
XR_001739042.2:n.2820C>T
XR_001739043.1:n.2796C>T
XR_001739044.2:n.2811C>T
XR_001739045.2:n.2781C>T
XR_001739046.1:n.3128C>T
XR_001739047.2:n.2697C>T
XR_001739048.1:n.2886C>T
XR_001739049.2:n.2631C>T
XR_001739050.2:n.2592C>T
XR_001739051.2:n.2559C>T
XR_001739052.2:n.2532C>T
XR_001739053.1:n.2521C>T
XR_001739054.1:n.2443C>T
XR_001739055.2:n.2460C>T
XR_001739056.2:n.2445C>T
XR_001739057.1:n.2461C>T
XR_001739058.1:n.2640C>T
XR_001739059.2:n.2373C>T
XR_001739060.1:n.2347C>T
XR_001739061.1:n.2389C>T
XR_001739062.1:n.2566C>T
XR_001739063.1:n.2273C>T
XR_001739064.1:n.2534C>T
XR_001739065.1:n.2478C>T
XR_001739066.1:n.2275C>T
XR_001739067.1:n.2182C>T
XR_001739068.1:n.2203C>T
XR_001739069.1:n.2380C>T
XR_001739070.1:n.2244C>T
XR_001739071.1:n.2102C>T
XR_001739072.1:n.2348C>T
XR_001739073.2:n.1591+3689C>T
XR_002959364.1:n.2274C>T
NM_001137550.2:c.1459+3689C>T MANE Select NP_001131022.1:n.1459+3689C>T
NM_001137552.2:c.2181C>T NP_001131024.1:p.Thr727=
NM_001137553.2:c.2013C>T NP_001131025.1:p.Thr671=
NM_004735.4:c.2109C>T NP_004726.2:p.Thr703=
NM_001137551.2:c.721+3689C>T NP_001131023.1:n.721+3689C>T