Canonical Allele Identifier: CA351204542

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672532T>C (hg19) ; chr2:g.237763889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763889T>C , CM000664.2:g.237763889T>C	GRCh38
NC_000002.11:g.238672532T>C , CM000664.1:g.238672532T>C	GRCh37
NC_000002.10:g.238337271T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3684T>C
ENST00000698098.1:c.955+3684T>C	ENSP00000513562.1:n.955+3684T>C
ENST00000308482.14:c.1459+3684T>C MANE Select	ENSP00000310109.9:n.1459+3684T>C
ENST00000244815.9:c.2104T>C	ENSP00000244815.5:p.Cys702Arg
ENST00000289175.10:c.2008T>C	ENSP00000289175.6:p.Cys670Arg
ENST00000308482.13:c.1459+3684T>C	ENSP00000310109.9:n.1459+3684T>C
ENST00000392000.4:c.2176T>C	ENSP00000375857.4:p.Cys726Arg
ENST00000483443.1:n.235+3684T>C
NM_001137550.1:c.1459+3684T>C	NP_001131022.1:n.1459+3684T>C
NM_001137551.1:c.721+3684T>C	NP_001131023.1:n.721+3684T>C
NM_001137552.1:c.2176T>C	NP_001131024.1:p.Cys726Arg
NM_001137553.1:c.2008T>C	NP_001131025.1:p.Cys670Arg
NM_004735.3:c.2104T>C	NP_004726.2:p.Cys702Arg
XM_005246112.3:c.2809T>C	XP_005246169.1:p.Cys937Arg
XM_005246115.3:c.2764T>C	XP_005246172.1:p.Cys922Arg
XM_005246116.3:c.2746T>C	XP_005246173.1:p.Cys916Arg
XM_005246118.3:c.2701T>C	XP_005246175.1:p.Cys901Arg
XM_005246119.3:c.2698T>C	XP_005246176.1:p.Cys900Arg
XM_005246120.3:c.2662T>C	XP_005246177.1:p.Cys888Arg
XM_005246121.3:c.2647T>C	XP_005246178.1:p.Cys883Arg
XM_005246122.3:c.2635T>C	XP_005246179.1:p.Cys879Arg
XM_005246124.1:c.2617T>C	XP_005246181.1:p.Cys873Arg
XM_005246125.3:c.2596T>C	XP_005246182.1:p.Cys866Arg
XM_005246126.3:c.2557T>C	XP_005246183.1:p.Cys853Arg
XM_005246128.1:c.2524T>C	XP_005246185.1:p.Cys842Arg
XM_005246129.3:c.2485T>C	XP_005246186.1:p.Cys829Arg
XM_005246130.3:c.2458T>C	XP_005246187.1:p.Cys820Arg
XM_005246131.3:c.2371T>C	XP_005246188.1:p.Cys791Arg
XM_005246132.3:c.2296T>C	XP_005246189.1:p.Cys766Arg
XM_005246133.1:c.2266T>C	XP_005246190.1:p.Cys756Arg
XM_005246134.1:c.2224T>C	XP_005246191.1:p.Cys742Arg
XM_005246135.1:c.2194T>C	XP_005246192.1:p.Cys732Arg
XM_005246136.1:c.2038T>C	XP_005246193.1:p.Cys680Arg
XM_005246141.3:c.823+3684T>C	XP_005246198.1:n.823+3684T>C
XM_005246142.1:c.751+3684T>C	XP_005246199.1:n.751+3684T>C
XM_006712842.2:c.2707T>C	XP_006712905.1:p.Cys903Arg
XM_006712843.2:c.2602T>C	XP_006712906.1:p.Cys868Arg
XM_006712844.1:c.2536T>C	XP_006712907.1:p.Cys846Arg
XM_006712845.2:c.2518T>C	XP_006712908.1:p.Cys840Arg
XM_006712846.1:c.2422T>C	XP_006712909.1:p.Cys808Arg
XM_006712847.1:c.2362T>C	XP_006712910.1:p.Cys788Arg
XM_006712848.1:c.2290T>C	XP_006712911.1:p.Cys764Arg
XM_011512152.1:c.2842T>C	XP_011510454.1:p.Cys948Arg
XM_011512153.1:c.2824T>C	XP_011510455.1:p.Cys942Arg
XM_011512154.1:c.2812T>C	XP_011510456.1:p.Cys938Arg
XM_011512155.1:c.2803T>C	XP_011510457.1:p.Cys935Arg
XM_011512156.1:c.2770T>C	XP_011510458.1:p.Cys924Arg
XM_011512157.1:c.2656T>C	XP_011510459.1:p.Cys886Arg
XM_011512158.1:c.2584T>C	XP_011510460.1:p.Cys862Arg
XM_011512159.1:c.2392T>C	XP_011510461.1:p.Cys798Arg
XM_011512160.1:c.1555+3684T>C	XP_011510462.1:n.1555+3684T>C
XM_011512161.1:c.1555+3684T>C	XP_011510463.1:n.1555+3684T>C
XM_011512162.1:c.1369+3684T>C	XP_011510464.1:n.1369+3684T>C
XM_011512163.1:c.1297+3684T>C	XP_011510465.1:n.1297+3684T>C
XM_011512164.1:c.751+3684T>C	XP_011510466.1:n.751+3684T>C
XM_011512165.1:c.721+3684T>C	XP_011510467.1:n.721+3684T>C
XM_011512166.1:c.1516+3684T>C	XP_011510468.1:n.1516+3684T>C
XR_923063.1:n.1605+3684T>C
XM_005246141.4:c.823+3684T>C	XP_005246198.1:n.823+3684T>C
XM_005246142.2:c.751+3684T>C	XP_005246199.1:n.751+3684T>C
XM_017005253.2:c.1522+3684T>C	XP_016860742.1:n.1522+3684T>C
XM_017005254.2:c.1522+3684T>C	XP_016860743.1:n.1522+3684T>C
XM_017005255.2:c.1450+3684T>C	XP_016860744.1:n.1450+3684T>C
XM_017005256.2:c.1336+3684T>C	XP_016860745.1:n.1336+3684T>C
XM_017005257.2:c.1387+3684T>C	XP_016860746.1:n.1387+3684T>C
XM_017005258.2:c.1336+3684T>C	XP_016860747.1:n.1336+3684T>C
XM_017005260.2:c.1162+3684T>C	XP_016860749.1:n.1162+3684T>C
XM_017005261.2:c.1099+3684T>C	XP_016860750.1:n.1099+3684T>C
XM_017005262.2:c.1099+3684T>C	XP_016860751.1:n.1099+3684T>C
XM_017005263.2:c.937+3684T>C	XP_016860752.1:n.937+3684T>C
XR_001739039.2:n.2878T>C
XR_001739040.1:n.3043T>C
XR_001739041.2:n.2839T>C
XR_001739042.2:n.2815T>C
XR_001739043.1:n.2791T>C
XR_001739044.2:n.2806T>C
XR_001739045.2:n.2776T>C
XR_001739046.1:n.3123T>C
XR_001739047.2:n.2692T>C
XR_001739048.1:n.2881T>C
XR_001739049.2:n.2626T>C
XR_001739050.2:n.2587T>C
XR_001739051.2:n.2554T>C
XR_001739052.2:n.2527T>C
XR_001739053.1:n.2516T>C
XR_001739054.1:n.2438T>C
XR_001739055.2:n.2455T>C
XR_001739056.2:n.2440T>C
XR_001739057.1:n.2456T>C
XR_001739058.1:n.2635T>C
XR_001739059.2:n.2368T>C
XR_001739060.1:n.2342T>C
XR_001739061.1:n.2384T>C
XR_001739062.1:n.2561T>C
XR_001739063.1:n.2268T>C
XR_001739064.1:n.2529T>C
XR_001739065.1:n.2473T>C
XR_001739066.1:n.2270T>C
XR_001739067.1:n.2177T>C
XR_001739068.1:n.2198T>C
XR_001739069.1:n.2375T>C
XR_001739070.1:n.2239T>C
XR_001739071.1:n.2097T>C
XR_001739072.1:n.2343T>C
XR_001739073.2:n.1591+3684T>C
XR_002959364.1:n.2269T>C
NM_001137550.2:c.1459+3684T>C MANE Select	NP_001131022.1:n.1459+3684T>C
NM_001137552.2:c.2176T>C	NP_001131024.1:p.Cys726Arg
NM_001137553.2:c.2008T>C	NP_001131025.1:p.Cys670Arg
NM_004735.4:c.2104T>C	NP_004726.2:p.Cys702Arg
NM_001137551.2:c.721+3684T>C	NP_001131023.1:n.721+3684T>C