Canonical Allele Identifier: CA351204524

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672528T>A (hg19) ; chr2:g.237763885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763885T>A , CM000664.2:g.237763885T>A	GRCh38
NC_000002.11:g.238672528T>A , CM000664.1:g.238672528T>A	GRCh37
NC_000002.10:g.238337267T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3680T>A
ENST00000698098.1:c.955+3680T>A	ENSP00000513562.1:n.955+3680T>A
ENST00000308482.14:c.1459+3680T>A MANE Select	ENSP00000310109.9:n.1459+3680T>A
ENST00000244815.9:c.2100T>A	ENSP00000244815.5:p.Asp700Glu
ENST00000289175.10:c.2004T>A	ENSP00000289175.6:p.Asp668Glu
ENST00000308482.13:c.1459+3680T>A	ENSP00000310109.9:n.1459+3680T>A
ENST00000392000.4:c.2172T>A	ENSP00000375857.4:p.Asp724Glu
ENST00000483443.1:n.235+3680T>A
NM_001137550.1:c.1459+3680T>A	NP_001131022.1:n.1459+3680T>A
NM_001137551.1:c.721+3680T>A	NP_001131023.1:n.721+3680T>A
NM_001137552.1:c.2172T>A	NP_001131024.1:p.Asp724Glu
NM_001137553.1:c.2004T>A	NP_001131025.1:p.Asp668Glu
NM_004735.3:c.2100T>A	NP_004726.2:p.Asp700Glu
XM_005246112.3:c.2805T>A	XP_005246169.1:p.Asp935Glu
XM_005246115.3:c.2760T>A	XP_005246172.1:p.Asp920Glu
XM_005246116.3:c.2742T>A	XP_005246173.1:p.Asp914Glu
XM_005246118.3:c.2697T>A	XP_005246175.1:p.Asp899Glu
XM_005246119.3:c.2694T>A	XP_005246176.1:p.Asp898Glu
XM_005246120.3:c.2658T>A	XP_005246177.1:p.Asp886Glu
XM_005246121.3:c.2643T>A	XP_005246178.1:p.Asp881Glu
XM_005246122.3:c.2631T>A	XP_005246179.1:p.Asp877Glu
XM_005246124.1:c.2613T>A	XP_005246181.1:p.Asp871Glu
XM_005246125.3:c.2592T>A	XP_005246182.1:p.Asp864Glu
XM_005246126.3:c.2553T>A	XP_005246183.1:p.Asp851Glu
XM_005246128.1:c.2520T>A	XP_005246185.1:p.Asp840Glu
XM_005246129.3:c.2481T>A	XP_005246186.1:p.Asp827Glu
XM_005246130.3:c.2454T>A	XP_005246187.1:p.Asp818Glu
XM_005246131.3:c.2367T>A	XP_005246188.1:p.Asp789Glu
XM_005246132.3:c.2292T>A	XP_005246189.1:p.Asp764Glu
XM_005246133.1:c.2262T>A	XP_005246190.1:p.Asp754Glu
XM_005246134.1:c.2220T>A	XP_005246191.1:p.Asp740Glu
XM_005246135.1:c.2190T>A	XP_005246192.1:p.Asp730Glu
XM_005246136.1:c.2034T>A	XP_005246193.1:p.Asp678Glu
XM_005246141.3:c.823+3680T>A	XP_005246198.1:n.823+3680T>A
XM_005246142.1:c.751+3680T>A	XP_005246199.1:n.751+3680T>A
XM_006712842.2:c.2703T>A	XP_006712905.1:p.Asp901Glu
XM_006712843.2:c.2598T>A	XP_006712906.1:p.Asp866Glu
XM_006712844.1:c.2532T>A	XP_006712907.1:p.Asp844Glu
XM_006712845.2:c.2514T>A	XP_006712908.1:p.Asp838Glu
XM_006712846.1:c.2418T>A	XP_006712909.1:p.Asp806Glu
XM_006712847.1:c.2358T>A	XP_006712910.1:p.Asp786Glu
XM_006712848.1:c.2286T>A	XP_006712911.1:p.Asp762Glu
XM_011512152.1:c.2838T>A	XP_011510454.1:p.Asp946Glu
XM_011512153.1:c.2820T>A	XP_011510455.1:p.Asp940Glu
XM_011512154.1:c.2808T>A	XP_011510456.1:p.Asp936Glu
XM_011512155.1:c.2799T>A	XP_011510457.1:p.Asp933Glu
XM_011512156.1:c.2766T>A	XP_011510458.1:p.Asp922Glu
XM_011512157.1:c.2652T>A	XP_011510459.1:p.Asp884Glu
XM_011512158.1:c.2580T>A	XP_011510460.1:p.Asp860Glu
XM_011512159.1:c.2388T>A	XP_011510461.1:p.Asp796Glu
XM_011512160.1:c.1555+3680T>A	XP_011510462.1:n.1555+3680T>A
XM_011512161.1:c.1555+3680T>A	XP_011510463.1:n.1555+3680T>A
XM_011512162.1:c.1369+3680T>A	XP_011510464.1:n.1369+3680T>A
XM_011512163.1:c.1297+3680T>A	XP_011510465.1:n.1297+3680T>A
XM_011512164.1:c.751+3680T>A	XP_011510466.1:n.751+3680T>A
XM_011512165.1:c.721+3680T>A	XP_011510467.1:n.721+3680T>A
XM_011512166.1:c.1516+3680T>A	XP_011510468.1:n.1516+3680T>A
XR_923063.1:n.1605+3680T>A
XM_005246141.4:c.823+3680T>A	XP_005246198.1:n.823+3680T>A
XM_005246142.2:c.751+3680T>A	XP_005246199.1:n.751+3680T>A
XM_017005253.2:c.1522+3680T>A	XP_016860742.1:n.1522+3680T>A
XM_017005254.2:c.1522+3680T>A	XP_016860743.1:n.1522+3680T>A
XM_017005255.2:c.1450+3680T>A	XP_016860744.1:n.1450+3680T>A
XM_017005256.2:c.1336+3680T>A	XP_016860745.1:n.1336+3680T>A
XM_017005257.2:c.1387+3680T>A	XP_016860746.1:n.1387+3680T>A
XM_017005258.2:c.1336+3680T>A	XP_016860747.1:n.1336+3680T>A
XM_017005260.2:c.1162+3680T>A	XP_016860749.1:n.1162+3680T>A
XM_017005261.2:c.1099+3680T>A	XP_016860750.1:n.1099+3680T>A
XM_017005262.2:c.1099+3680T>A	XP_016860751.1:n.1099+3680T>A
XM_017005263.2:c.937+3680T>A	XP_016860752.1:n.937+3680T>A
XR_001739039.2:n.2874T>A
XR_001739040.1:n.3039T>A
XR_001739041.2:n.2835T>A
XR_001739042.2:n.2811T>A
XR_001739043.1:n.2787T>A
XR_001739044.2:n.2802T>A
XR_001739045.2:n.2772T>A
XR_001739046.1:n.3119T>A
XR_001739047.2:n.2688T>A
XR_001739048.1:n.2877T>A
XR_001739049.2:n.2622T>A
XR_001739050.2:n.2583T>A
XR_001739051.2:n.2550T>A
XR_001739052.2:n.2523T>A
XR_001739053.1:n.2512T>A
XR_001739054.1:n.2434T>A
XR_001739055.2:n.2451T>A
XR_001739056.2:n.2436T>A
XR_001739057.1:n.2452T>A
XR_001739058.1:n.2631T>A
XR_001739059.2:n.2364T>A
XR_001739060.1:n.2338T>A
XR_001739061.1:n.2380T>A
XR_001739062.1:n.2557T>A
XR_001739063.1:n.2264T>A
XR_001739064.1:n.2525T>A
XR_001739065.1:n.2469T>A
XR_001739066.1:n.2266T>A
XR_001739067.1:n.2173T>A
XR_001739068.1:n.2194T>A
XR_001739069.1:n.2371T>A
XR_001739070.1:n.2235T>A
XR_001739071.1:n.2093T>A
XR_001739072.1:n.2339T>A
XR_001739073.2:n.1591+3680T>A
XR_002959364.1:n.2265T>A
NM_001137550.2:c.1459+3680T>A MANE Select	NP_001131022.1:n.1459+3680T>A
NM_001137552.2:c.2172T>A	NP_001131024.1:p.Asp724Glu
NM_001137553.2:c.2004T>A	NP_001131025.1:p.Asp668Glu
NM_004735.4:c.2100T>A	NP_004726.2:p.Asp700Glu
NM_001137551.2:c.721+3680T>A	NP_001131023.1:n.721+3680T>A