Canonical Allele Identifier: CA351204517

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672526G>C (hg19) ; chr2:g.237763883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763883G>C , CM000664.2:g.237763883G>C	GRCh38
NC_000002.11:g.238672526G>C , CM000664.1:g.238672526G>C	GRCh37
NC_000002.10:g.238337265G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3678G>C
ENST00000698098.1:c.955+3678G>C	ENSP00000513562.1:n.955+3678G>C
ENST00000308482.14:c.1459+3678G>C MANE Select	ENSP00000310109.9:n.1459+3678G>C
ENST00000244815.9:c.2098G>C	ENSP00000244815.5:p.Asp700His
ENST00000289175.10:c.2002G>C	ENSP00000289175.6:p.Asp668His
ENST00000308482.13:c.1459+3678G>C	ENSP00000310109.9:n.1459+3678G>C
ENST00000392000.4:c.2170G>C	ENSP00000375857.4:p.Asp724His
ENST00000483443.1:n.235+3678G>C
NM_001137550.1:c.1459+3678G>C	NP_001131022.1:n.1459+3678G>C
NM_001137551.1:c.721+3678G>C	NP_001131023.1:n.721+3678G>C
NM_001137552.1:c.2170G>C	NP_001131024.1:p.Asp724His
NM_001137553.1:c.2002G>C	NP_001131025.1:p.Asp668His
NM_004735.3:c.2098G>C	NP_004726.2:p.Asp700His
XM_005246112.3:c.2803G>C	XP_005246169.1:p.Asp935His
XM_005246115.3:c.2758G>C	XP_005246172.1:p.Asp920His
XM_005246116.3:c.2740G>C	XP_005246173.1:p.Asp914His
XM_005246118.3:c.2695G>C	XP_005246175.1:p.Asp899His
XM_005246119.3:c.2692G>C	XP_005246176.1:p.Asp898His
XM_005246120.3:c.2656G>C	XP_005246177.1:p.Asp886His
XM_005246121.3:c.2641G>C	XP_005246178.1:p.Asp881His
XM_005246122.3:c.2629G>C	XP_005246179.1:p.Asp877His
XM_005246124.1:c.2611G>C	XP_005246181.1:p.Asp871His
XM_005246125.3:c.2590G>C	XP_005246182.1:p.Asp864His
XM_005246126.3:c.2551G>C	XP_005246183.1:p.Asp851His
XM_005246128.1:c.2518G>C	XP_005246185.1:p.Asp840His
XM_005246129.3:c.2479G>C	XP_005246186.1:p.Asp827His
XM_005246130.3:c.2452G>C	XP_005246187.1:p.Asp818His
XM_005246131.3:c.2365G>C	XP_005246188.1:p.Asp789His
XM_005246132.3:c.2290G>C	XP_005246189.1:p.Asp764His
XM_005246133.1:c.2260G>C	XP_005246190.1:p.Asp754His
XM_005246134.1:c.2218G>C	XP_005246191.1:p.Asp740His
XM_005246135.1:c.2188G>C	XP_005246192.1:p.Asp730His
XM_005246136.1:c.2032G>C	XP_005246193.1:p.Asp678His
XM_005246141.3:c.823+3678G>C	XP_005246198.1:n.823+3678G>C
XM_005246142.1:c.751+3678G>C	XP_005246199.1:n.751+3678G>C
XM_006712842.2:c.2701G>C	XP_006712905.1:p.Asp901His
XM_006712843.2:c.2596G>C	XP_006712906.1:p.Asp866His
XM_006712844.1:c.2530G>C	XP_006712907.1:p.Asp844His
XM_006712845.2:c.2512G>C	XP_006712908.1:p.Asp838His
XM_006712846.1:c.2416G>C	XP_006712909.1:p.Asp806His
XM_006712847.1:c.2356G>C	XP_006712910.1:p.Asp786His
XM_006712848.1:c.2284G>C	XP_006712911.1:p.Asp762His
XM_011512152.1:c.2836G>C	XP_011510454.1:p.Asp946His
XM_011512153.1:c.2818G>C	XP_011510455.1:p.Asp940His
XM_011512154.1:c.2806G>C	XP_011510456.1:p.Asp936His
XM_011512155.1:c.2797G>C	XP_011510457.1:p.Asp933His
XM_011512156.1:c.2764G>C	XP_011510458.1:p.Asp922His
XM_011512157.1:c.2650G>C	XP_011510459.1:p.Asp884His
XM_011512158.1:c.2578G>C	XP_011510460.1:p.Asp860His
XM_011512159.1:c.2386G>C	XP_011510461.1:p.Asp796His
XM_011512160.1:c.1555+3678G>C	XP_011510462.1:n.1555+3678G>C
XM_011512161.1:c.1555+3678G>C	XP_011510463.1:n.1555+3678G>C
XM_011512162.1:c.1369+3678G>C	XP_011510464.1:n.1369+3678G>C
XM_011512163.1:c.1297+3678G>C	XP_011510465.1:n.1297+3678G>C
XM_011512164.1:c.751+3678G>C	XP_011510466.1:n.751+3678G>C
XM_011512165.1:c.721+3678G>C	XP_011510467.1:n.721+3678G>C
XM_011512166.1:c.1516+3678G>C	XP_011510468.1:n.1516+3678G>C
XR_923063.1:n.1605+3678G>C
XM_005246141.4:c.823+3678G>C	XP_005246198.1:n.823+3678G>C
XM_005246142.2:c.751+3678G>C	XP_005246199.1:n.751+3678G>C
XM_017005253.2:c.1522+3678G>C	XP_016860742.1:n.1522+3678G>C
XM_017005254.2:c.1522+3678G>C	XP_016860743.1:n.1522+3678G>C
XM_017005255.2:c.1450+3678G>C	XP_016860744.1:n.1450+3678G>C
XM_017005256.2:c.1336+3678G>C	XP_016860745.1:n.1336+3678G>C
XM_017005257.2:c.1387+3678G>C	XP_016860746.1:n.1387+3678G>C
XM_017005258.2:c.1336+3678G>C	XP_016860747.1:n.1336+3678G>C
XM_017005260.2:c.1162+3678G>C	XP_016860749.1:n.1162+3678G>C
XM_017005261.2:c.1099+3678G>C	XP_016860750.1:n.1099+3678G>C
XM_017005262.2:c.1099+3678G>C	XP_016860751.1:n.1099+3678G>C
XM_017005263.2:c.937+3678G>C	XP_016860752.1:n.937+3678G>C
XR_001739039.2:n.2872G>C
XR_001739040.1:n.3037G>C
XR_001739041.2:n.2833G>C
XR_001739042.2:n.2809G>C
XR_001739043.1:n.2785G>C
XR_001739044.2:n.2800G>C
XR_001739045.2:n.2770G>C
XR_001739046.1:n.3117G>C
XR_001739047.2:n.2686G>C
XR_001739048.1:n.2875G>C
XR_001739049.2:n.2620G>C
XR_001739050.2:n.2581G>C
XR_001739051.2:n.2548G>C
XR_001739052.2:n.2521G>C
XR_001739053.1:n.2510G>C
XR_001739054.1:n.2432G>C
XR_001739055.2:n.2449G>C
XR_001739056.2:n.2434G>C
XR_001739057.1:n.2450G>C
XR_001739058.1:n.2629G>C
XR_001739059.2:n.2362G>C
XR_001739060.1:n.2336G>C
XR_001739061.1:n.2378G>C
XR_001739062.1:n.2555G>C
XR_001739063.1:n.2262G>C
XR_001739064.1:n.2523G>C
XR_001739065.1:n.2467G>C
XR_001739066.1:n.2264G>C
XR_001739067.1:n.2171G>C
XR_001739068.1:n.2192G>C
XR_001739069.1:n.2369G>C
XR_001739070.1:n.2233G>C
XR_001739071.1:n.2091G>C
XR_001739072.1:n.2337G>C
XR_001739073.2:n.1591+3678G>C
XR_002959364.1:n.2263G>C
NM_001137550.2:c.1459+3678G>C MANE Select	NP_001131022.1:n.1459+3678G>C
NM_001137552.2:c.2170G>C	NP_001131024.1:p.Asp724His
NM_001137553.2:c.2002G>C	NP_001131025.1:p.Asp668His
NM_004735.4:c.2098G>C	NP_004726.2:p.Asp700His
NM_001137551.2:c.721+3678G>C	NP_001131023.1:n.721+3678G>C