Canonical Allele Identifier: CA351204038

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672461A>C (hg19) ; chr2:g.237763818A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763818A>C , CM000664.2:g.237763818A>C	GRCh38
NC_000002.11:g.238672461A>C , CM000664.1:g.238672461A>C	GRCh37
NC_000002.10:g.238337200A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3613A>C
ENST00000698098.1:c.955+3613A>C	ENSP00000513562.1:n.955+3613A>C
ENST00000308482.14:c.1459+3613A>C MANE Select	ENSP00000310109.9:n.1459+3613A>C
ENST00000244815.9:c.2033A>C	ENSP00000244815.5:p.Lys678Thr
ENST00000289175.10:c.1937A>C	ENSP00000289175.6:p.Lys646Thr
ENST00000308482.13:c.1459+3613A>C	ENSP00000310109.9:n.1459+3613A>C
ENST00000392000.4:c.2105A>C	ENSP00000375857.4:p.Lys702Thr
ENST00000483443.1:n.235+3613A>C
NM_001137550.1:c.1459+3613A>C	NP_001131022.1:n.1459+3613A>C
NM_001137551.1:c.721+3613A>C	NP_001131023.1:n.721+3613A>C
NM_001137552.1:c.2105A>C	NP_001131024.1:p.Lys702Thr
NM_001137553.1:c.1937A>C	NP_001131025.1:p.Lys646Thr
NM_004735.3:c.2033A>C	NP_004726.2:p.Lys678Thr
XM_005246112.3:c.2738A>C	XP_005246169.1:p.Lys913Thr
XM_005246115.3:c.2693A>C	XP_005246172.1:p.Lys898Thr
XM_005246116.3:c.2675A>C	XP_005246173.1:p.Lys892Thr
XM_005246118.3:c.2630A>C	XP_005246175.1:p.Lys877Thr
XM_005246119.3:c.2627A>C	XP_005246176.1:p.Lys876Thr
XM_005246120.3:c.2591A>C	XP_005246177.1:p.Lys864Thr
XM_005246121.3:c.2576A>C	XP_005246178.1:p.Lys859Thr
XM_005246122.3:c.2564A>C	XP_005246179.1:p.Lys855Thr
XM_005246124.1:c.2546A>C	XP_005246181.1:p.Lys849Thr
XM_005246125.3:c.2525A>C	XP_005246182.1:p.Lys842Thr
XM_005246126.3:c.2486A>C	XP_005246183.1:p.Lys829Thr
XM_005246128.1:c.2453A>C	XP_005246185.1:p.Lys818Thr
XM_005246129.3:c.2414A>C	XP_005246186.1:p.Lys805Thr
XM_005246130.3:c.2387A>C	XP_005246187.1:p.Lys796Thr
XM_005246131.3:c.2300A>C	XP_005246188.1:p.Lys767Thr
XM_005246132.3:c.2225A>C	XP_005246189.1:p.Lys742Thr
XM_005246133.1:c.2195A>C	XP_005246190.1:p.Lys732Thr
XM_005246134.1:c.2153A>C	XP_005246191.1:p.Lys718Thr
XM_005246135.1:c.2123A>C	XP_005246192.1:p.Lys708Thr
XM_005246136.1:c.1967A>C	XP_005246193.1:p.Lys656Thr
XM_005246141.3:c.823+3613A>C	XP_005246198.1:n.823+3613A>C
XM_005246142.1:c.751+3613A>C	XP_005246199.1:n.751+3613A>C
XM_006712842.2:c.2636A>C	XP_006712905.1:p.Lys879Thr
XM_006712843.2:c.2531A>C	XP_006712906.1:p.Lys844Thr
XM_006712844.1:c.2465A>C	XP_006712907.1:p.Lys822Thr
XM_006712845.2:c.2447A>C	XP_006712908.1:p.Lys816Thr
XM_006712846.1:c.2351A>C	XP_006712909.1:p.Lys784Thr
XM_006712847.1:c.2291A>C	XP_006712910.1:p.Lys764Thr
XM_006712848.1:c.2219A>C	XP_006712911.1:p.Lys740Thr
XM_011512152.1:c.2771A>C	XP_011510454.1:p.Lys924Thr
XM_011512153.1:c.2753A>C	XP_011510455.1:p.Lys918Thr
XM_011512154.1:c.2741A>C	XP_011510456.1:p.Lys914Thr
XM_011512155.1:c.2732A>C	XP_011510457.1:p.Lys911Thr
XM_011512156.1:c.2699A>C	XP_011510458.1:p.Lys900Thr
XM_011512157.1:c.2585A>C	XP_011510459.1:p.Lys862Thr
XM_011512158.1:c.2513A>C	XP_011510460.1:p.Lys838Thr
XM_011512159.1:c.2321A>C	XP_011510461.1:p.Lys774Thr
XM_011512160.1:c.1555+3613A>C	XP_011510462.1:n.1555+3613A>C
XM_011512161.1:c.1555+3613A>C	XP_011510463.1:n.1555+3613A>C
XM_011512162.1:c.1369+3613A>C	XP_011510464.1:n.1369+3613A>C
XM_011512163.1:c.1297+3613A>C	XP_011510465.1:n.1297+3613A>C
XM_011512164.1:c.751+3613A>C	XP_011510466.1:n.751+3613A>C
XM_011512165.1:c.721+3613A>C	XP_011510467.1:n.721+3613A>C
XM_011512166.1:c.1516+3613A>C	XP_011510468.1:n.1516+3613A>C
XR_923063.1:n.1605+3613A>C
XM_005246141.4:c.823+3613A>C	XP_005246198.1:n.823+3613A>C
XM_005246142.2:c.751+3613A>C	XP_005246199.1:n.751+3613A>C
XM_017005253.2:c.1522+3613A>C	XP_016860742.1:n.1522+3613A>C
XM_017005254.2:c.1522+3613A>C	XP_016860743.1:n.1522+3613A>C
XM_017005255.2:c.1450+3613A>C	XP_016860744.1:n.1450+3613A>C
XM_017005256.2:c.1336+3613A>C	XP_016860745.1:n.1336+3613A>C
XM_017005257.2:c.1387+3613A>C	XP_016860746.1:n.1387+3613A>C
XM_017005258.2:c.1336+3613A>C	XP_016860747.1:n.1336+3613A>C
XM_017005260.2:c.1162+3613A>C	XP_016860749.1:n.1162+3613A>C
XM_017005261.2:c.1099+3613A>C	XP_016860750.1:n.1099+3613A>C
XM_017005262.2:c.1099+3613A>C	XP_016860751.1:n.1099+3613A>C
XM_017005263.2:c.937+3613A>C	XP_016860752.1:n.937+3613A>C
XR_001739039.2:n.2807A>C
XR_001739040.1:n.2972A>C
XR_001739041.2:n.2768A>C
XR_001739042.2:n.2744A>C
XR_001739043.1:n.2720A>C
XR_001739044.2:n.2735A>C
XR_001739045.2:n.2705A>C
XR_001739046.1:n.3052A>C
XR_001739047.2:n.2621A>C
XR_001739048.1:n.2810A>C
XR_001739049.2:n.2555A>C
XR_001739050.2:n.2516A>C
XR_001739051.2:n.2483A>C
XR_001739052.2:n.2456A>C
XR_001739053.1:n.2445A>C
XR_001739054.1:n.2367A>C
XR_001739055.2:n.2384A>C
XR_001739056.2:n.2369A>C
XR_001739057.1:n.2385A>C
XR_001739058.1:n.2564A>C
XR_001739059.2:n.2297A>C
XR_001739060.1:n.2271A>C
XR_001739061.1:n.2313A>C
XR_001739062.1:n.2490A>C
XR_001739063.1:n.2197A>C
XR_001739064.1:n.2458A>C
XR_001739065.1:n.2402A>C
XR_001739066.1:n.2199A>C
XR_001739067.1:n.2106A>C
XR_001739068.1:n.2127A>C
XR_001739069.1:n.2304A>C
XR_001739070.1:n.2168A>C
XR_001739071.1:n.2026A>C
XR_001739072.1:n.2272A>C
XR_001739073.2:n.1591+3613A>C
XR_002959364.1:n.2198A>C
NM_001137550.2:c.1459+3613A>C MANE Select	NP_001131022.1:n.1459+3613A>C
NM_001137552.2:c.2105A>C	NP_001131024.1:p.Lys702Thr
NM_001137553.2:c.1937A>C	NP_001131025.1:p.Lys646Thr
NM_004735.4:c.2033A>C	NP_004726.2:p.Lys678Thr
NM_001137551.2:c.721+3613A>C	NP_001131023.1:n.721+3613A>C