Canonical Allele Identifier: CA351204455

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672517G>C (hg19) ; chr2:g.237763874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763874G>C , CM000664.2:g.237763874G>C	GRCh38
NC_000002.11:g.238672517G>C , CM000664.1:g.238672517G>C	GRCh37
NC_000002.10:g.238337256G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3669G>C
ENST00000698098.1:c.955+3669G>C	ENSP00000513562.1:n.955+3669G>C
ENST00000308482.14:c.1459+3669G>C MANE Select	ENSP00000310109.9:n.1459+3669G>C
ENST00000244815.9:c.2089G>C	ENSP00000244815.5:p.Glu697Gln
ENST00000289175.10:c.1993G>C	ENSP00000289175.6:p.Glu665Gln
ENST00000308482.13:c.1459+3669G>C	ENSP00000310109.9:n.1459+3669G>C
ENST00000392000.4:c.2161G>C	ENSP00000375857.4:p.Glu721Gln
ENST00000483443.1:n.235+3669G>C
NM_001137550.1:c.1459+3669G>C	NP_001131022.1:n.1459+3669G>C
NM_001137551.1:c.721+3669G>C	NP_001131023.1:n.721+3669G>C
NM_001137552.1:c.2161G>C	NP_001131024.1:p.Glu721Gln
NM_001137553.1:c.1993G>C	NP_001131025.1:p.Glu665Gln
NM_004735.3:c.2089G>C	NP_004726.2:p.Glu697Gln
XM_005246112.3:c.2794G>C	XP_005246169.1:p.Glu932Gln
XM_005246115.3:c.2749G>C	XP_005246172.1:p.Glu917Gln
XM_005246116.3:c.2731G>C	XP_005246173.1:p.Glu911Gln
XM_005246118.3:c.2686G>C	XP_005246175.1:p.Glu896Gln
XM_005246119.3:c.2683G>C	XP_005246176.1:p.Glu895Gln
XM_005246120.3:c.2647G>C	XP_005246177.1:p.Glu883Gln
XM_005246121.3:c.2632G>C	XP_005246178.1:p.Glu878Gln
XM_005246122.3:c.2620G>C	XP_005246179.1:p.Glu874Gln
XM_005246124.1:c.2602G>C	XP_005246181.1:p.Glu868Gln
XM_005246125.3:c.2581G>C	XP_005246182.1:p.Glu861Gln
XM_005246126.3:c.2542G>C	XP_005246183.1:p.Glu848Gln
XM_005246128.1:c.2509G>C	XP_005246185.1:p.Glu837Gln
XM_005246129.3:c.2470G>C	XP_005246186.1:p.Glu824Gln
XM_005246130.3:c.2443G>C	XP_005246187.1:p.Glu815Gln
XM_005246131.3:c.2356G>C	XP_005246188.1:p.Glu786Gln
XM_005246132.3:c.2281G>C	XP_005246189.1:p.Glu761Gln
XM_005246133.1:c.2251G>C	XP_005246190.1:p.Glu751Gln
XM_005246134.1:c.2209G>C	XP_005246191.1:p.Glu737Gln
XM_005246135.1:c.2179G>C	XP_005246192.1:p.Glu727Gln
XM_005246136.1:c.2023G>C	XP_005246193.1:p.Glu675Gln
XM_005246141.3:c.823+3669G>C	XP_005246198.1:n.823+3669G>C
XM_005246142.1:c.751+3669G>C	XP_005246199.1:n.751+3669G>C
XM_006712842.2:c.2692G>C	XP_006712905.1:p.Glu898Gln
XM_006712843.2:c.2587G>C	XP_006712906.1:p.Glu863Gln
XM_006712844.1:c.2521G>C	XP_006712907.1:p.Glu841Gln
XM_006712845.2:c.2503G>C	XP_006712908.1:p.Glu835Gln
XM_006712846.1:c.2407G>C	XP_006712909.1:p.Glu803Gln
XM_006712847.1:c.2347G>C	XP_006712910.1:p.Glu783Gln
XM_006712848.1:c.2275G>C	XP_006712911.1:p.Glu759Gln
XM_011512152.1:c.2827G>C	XP_011510454.1:p.Glu943Gln
XM_011512153.1:c.2809G>C	XP_011510455.1:p.Glu937Gln
XM_011512154.1:c.2797G>C	XP_011510456.1:p.Glu933Gln
XM_011512155.1:c.2788G>C	XP_011510457.1:p.Glu930Gln
XM_011512156.1:c.2755G>C	XP_011510458.1:p.Glu919Gln
XM_011512157.1:c.2641G>C	XP_011510459.1:p.Glu881Gln
XM_011512158.1:c.2569G>C	XP_011510460.1:p.Glu857Gln
XM_011512159.1:c.2377G>C	XP_011510461.1:p.Glu793Gln
XM_011512160.1:c.1555+3669G>C	XP_011510462.1:n.1555+3669G>C
XM_011512161.1:c.1555+3669G>C	XP_011510463.1:n.1555+3669G>C
XM_011512162.1:c.1369+3669G>C	XP_011510464.1:n.1369+3669G>C
XM_011512163.1:c.1297+3669G>C	XP_011510465.1:n.1297+3669G>C
XM_011512164.1:c.751+3669G>C	XP_011510466.1:n.751+3669G>C
XM_011512165.1:c.721+3669G>C	XP_011510467.1:n.721+3669G>C
XM_011512166.1:c.1516+3669G>C	XP_011510468.1:n.1516+3669G>C
XR_923063.1:n.1605+3669G>C
XM_005246141.4:c.823+3669G>C	XP_005246198.1:n.823+3669G>C
XM_005246142.2:c.751+3669G>C	XP_005246199.1:n.751+3669G>C
XM_017005253.2:c.1522+3669G>C	XP_016860742.1:n.1522+3669G>C
XM_017005254.2:c.1522+3669G>C	XP_016860743.1:n.1522+3669G>C
XM_017005255.2:c.1450+3669G>C	XP_016860744.1:n.1450+3669G>C
XM_017005256.2:c.1336+3669G>C	XP_016860745.1:n.1336+3669G>C
XM_017005257.2:c.1387+3669G>C	XP_016860746.1:n.1387+3669G>C
XM_017005258.2:c.1336+3669G>C	XP_016860747.1:n.1336+3669G>C
XM_017005260.2:c.1162+3669G>C	XP_016860749.1:n.1162+3669G>C
XM_017005261.2:c.1099+3669G>C	XP_016860750.1:n.1099+3669G>C
XM_017005262.2:c.1099+3669G>C	XP_016860751.1:n.1099+3669G>C
XM_017005263.2:c.937+3669G>C	XP_016860752.1:n.937+3669G>C
XR_001739039.2:n.2863G>C
XR_001739040.1:n.3028G>C
XR_001739041.2:n.2824G>C
XR_001739042.2:n.2800G>C
XR_001739043.1:n.2776G>C
XR_001739044.2:n.2791G>C
XR_001739045.2:n.2761G>C
XR_001739046.1:n.3108G>C
XR_001739047.2:n.2677G>C
XR_001739048.1:n.2866G>C
XR_001739049.2:n.2611G>C
XR_001739050.2:n.2572G>C
XR_001739051.2:n.2539G>C
XR_001739052.2:n.2512G>C
XR_001739053.1:n.2501G>C
XR_001739054.1:n.2423G>C
XR_001739055.2:n.2440G>C
XR_001739056.2:n.2425G>C
XR_001739057.1:n.2441G>C
XR_001739058.1:n.2620G>C
XR_001739059.2:n.2353G>C
XR_001739060.1:n.2327G>C
XR_001739061.1:n.2369G>C
XR_001739062.1:n.2546G>C
XR_001739063.1:n.2253G>C
XR_001739064.1:n.2514G>C
XR_001739065.1:n.2458G>C
XR_001739066.1:n.2255G>C
XR_001739067.1:n.2162G>C
XR_001739068.1:n.2183G>C
XR_001739069.1:n.2360G>C
XR_001739070.1:n.2224G>C
XR_001739071.1:n.2082G>C
XR_001739072.1:n.2328G>C
XR_001739073.2:n.1591+3669G>C
XR_002959364.1:n.2254G>C
NM_001137550.2:c.1459+3669G>C MANE Select	NP_001131022.1:n.1459+3669G>C
NM_001137552.2:c.2161G>C	NP_001131024.1:p.Glu721Gln
NM_001137553.2:c.1993G>C	NP_001131025.1:p.Glu665Gln
NM_004735.4:c.2089G>C	NP_004726.2:p.Glu697Gln
NM_001137551.2:c.721+3669G>C	NP_001131023.1:n.721+3669G>C