Canonical Allele Identifier: CA351204547

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672533G>A (hg19) ; chr2:g.237763890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763890G>A , CM000664.2:g.237763890G>A	GRCh38
NC_000002.11:g.238672533G>A , CM000664.1:g.238672533G>A	GRCh37
NC_000002.10:g.238337272G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3685G>A
ENST00000698098.1:c.955+3685G>A	ENSP00000513562.1:n.955+3685G>A
ENST00000308482.14:c.1459+3685G>A MANE Select	ENSP00000310109.9:n.1459+3685G>A
ENST00000244815.9:c.2105G>A	ENSP00000244815.5:p.Cys702Tyr
ENST00000289175.10:c.2009G>A	ENSP00000289175.6:p.Cys670Tyr
ENST00000308482.13:c.1459+3685G>A	ENSP00000310109.9:n.1459+3685G>A
ENST00000392000.4:c.2177G>A	ENSP00000375857.4:p.Cys726Tyr
ENST00000483443.1:n.235+3685G>A
NM_001137550.1:c.1459+3685G>A	NP_001131022.1:n.1459+3685G>A
NM_001137551.1:c.721+3685G>A	NP_001131023.1:n.721+3685G>A
NM_001137552.1:c.2177G>A	NP_001131024.1:p.Cys726Tyr
NM_001137553.1:c.2009G>A	NP_001131025.1:p.Cys670Tyr
NM_004735.3:c.2105G>A	NP_004726.2:p.Cys702Tyr
XM_005246112.3:c.2810G>A	XP_005246169.1:p.Cys937Tyr
XM_005246115.3:c.2765G>A	XP_005246172.1:p.Cys922Tyr
XM_005246116.3:c.2747G>A	XP_005246173.1:p.Cys916Tyr
XM_005246118.3:c.2702G>A	XP_005246175.1:p.Cys901Tyr
XM_005246119.3:c.2699G>A	XP_005246176.1:p.Cys900Tyr
XM_005246120.3:c.2663G>A	XP_005246177.1:p.Cys888Tyr
XM_005246121.3:c.2648G>A	XP_005246178.1:p.Cys883Tyr
XM_005246122.3:c.2636G>A	XP_005246179.1:p.Cys879Tyr
XM_005246124.1:c.2618G>A	XP_005246181.1:p.Cys873Tyr
XM_005246125.3:c.2597G>A	XP_005246182.1:p.Cys866Tyr
XM_005246126.3:c.2558G>A	XP_005246183.1:p.Cys853Tyr
XM_005246128.1:c.2525G>A	XP_005246185.1:p.Cys842Tyr
XM_005246129.3:c.2486G>A	XP_005246186.1:p.Cys829Tyr
XM_005246130.3:c.2459G>A	XP_005246187.1:p.Cys820Tyr
XM_005246131.3:c.2372G>A	XP_005246188.1:p.Cys791Tyr
XM_005246132.3:c.2297G>A	XP_005246189.1:p.Cys766Tyr
XM_005246133.1:c.2267G>A	XP_005246190.1:p.Cys756Tyr
XM_005246134.1:c.2225G>A	XP_005246191.1:p.Cys742Tyr
XM_005246135.1:c.2195G>A	XP_005246192.1:p.Cys732Tyr
XM_005246136.1:c.2039G>A	XP_005246193.1:p.Cys680Tyr
XM_005246141.3:c.823+3685G>A	XP_005246198.1:n.823+3685G>A
XM_005246142.1:c.751+3685G>A	XP_005246199.1:n.751+3685G>A
XM_006712842.2:c.2708G>A	XP_006712905.1:p.Cys903Tyr
XM_006712843.2:c.2603G>A	XP_006712906.1:p.Cys868Tyr
XM_006712844.1:c.2537G>A	XP_006712907.1:p.Cys846Tyr
XM_006712845.2:c.2519G>A	XP_006712908.1:p.Cys840Tyr
XM_006712846.1:c.2423G>A	XP_006712909.1:p.Cys808Tyr
XM_006712847.1:c.2363G>A	XP_006712910.1:p.Cys788Tyr
XM_006712848.1:c.2291G>A	XP_006712911.1:p.Cys764Tyr
XM_011512152.1:c.2843G>A	XP_011510454.1:p.Cys948Tyr
XM_011512153.1:c.2825G>A	XP_011510455.1:p.Cys942Tyr
XM_011512154.1:c.2813G>A	XP_011510456.1:p.Cys938Tyr
XM_011512155.1:c.2804G>A	XP_011510457.1:p.Cys935Tyr
XM_011512156.1:c.2771G>A	XP_011510458.1:p.Cys924Tyr
XM_011512157.1:c.2657G>A	XP_011510459.1:p.Cys886Tyr
XM_011512158.1:c.2585G>A	XP_011510460.1:p.Cys862Tyr
XM_011512159.1:c.2393G>A	XP_011510461.1:p.Cys798Tyr
XM_011512160.1:c.1555+3685G>A	XP_011510462.1:n.1555+3685G>A
XM_011512161.1:c.1555+3685G>A	XP_011510463.1:n.1555+3685G>A
XM_011512162.1:c.1369+3685G>A	XP_011510464.1:n.1369+3685G>A
XM_011512163.1:c.1297+3685G>A	XP_011510465.1:n.1297+3685G>A
XM_011512164.1:c.751+3685G>A	XP_011510466.1:n.751+3685G>A
XM_011512165.1:c.721+3685G>A	XP_011510467.1:n.721+3685G>A
XM_011512166.1:c.1516+3685G>A	XP_011510468.1:n.1516+3685G>A
XR_923063.1:n.1605+3685G>A
XM_005246141.4:c.823+3685G>A	XP_005246198.1:n.823+3685G>A
XM_005246142.2:c.751+3685G>A	XP_005246199.1:n.751+3685G>A
XM_017005253.2:c.1522+3685G>A	XP_016860742.1:n.1522+3685G>A
XM_017005254.2:c.1522+3685G>A	XP_016860743.1:n.1522+3685G>A
XM_017005255.2:c.1450+3685G>A	XP_016860744.1:n.1450+3685G>A
XM_017005256.2:c.1336+3685G>A	XP_016860745.1:n.1336+3685G>A
XM_017005257.2:c.1387+3685G>A	XP_016860746.1:n.1387+3685G>A
XM_017005258.2:c.1336+3685G>A	XP_016860747.1:n.1336+3685G>A
XM_017005260.2:c.1162+3685G>A	XP_016860749.1:n.1162+3685G>A
XM_017005261.2:c.1099+3685G>A	XP_016860750.1:n.1099+3685G>A
XM_017005262.2:c.1099+3685G>A	XP_016860751.1:n.1099+3685G>A
XM_017005263.2:c.937+3685G>A	XP_016860752.1:n.937+3685G>A
XR_001739039.2:n.2879G>A
XR_001739040.1:n.3044G>A
XR_001739041.2:n.2840G>A
XR_001739042.2:n.2816G>A
XR_001739043.1:n.2792G>A
XR_001739044.2:n.2807G>A
XR_001739045.2:n.2777G>A
XR_001739046.1:n.3124G>A
XR_001739047.2:n.2693G>A
XR_001739048.1:n.2882G>A
XR_001739049.2:n.2627G>A
XR_001739050.2:n.2588G>A
XR_001739051.2:n.2555G>A
XR_001739052.2:n.2528G>A
XR_001739053.1:n.2517G>A
XR_001739054.1:n.2439G>A
XR_001739055.2:n.2456G>A
XR_001739056.2:n.2441G>A
XR_001739057.1:n.2457G>A
XR_001739058.1:n.2636G>A
XR_001739059.2:n.2369G>A
XR_001739060.1:n.2343G>A
XR_001739061.1:n.2385G>A
XR_001739062.1:n.2562G>A
XR_001739063.1:n.2269G>A
XR_001739064.1:n.2530G>A
XR_001739065.1:n.2474G>A
XR_001739066.1:n.2271G>A
XR_001739067.1:n.2178G>A
XR_001739068.1:n.2199G>A
XR_001739069.1:n.2376G>A
XR_001739070.1:n.2240G>A
XR_001739071.1:n.2098G>A
XR_001739072.1:n.2344G>A
XR_001739073.2:n.1591+3685G>A
XR_002959364.1:n.2270G>A
NM_001137550.2:c.1459+3685G>A MANE Select	NP_001131022.1:n.1459+3685G>A
NM_001137552.2:c.2177G>A	NP_001131024.1:p.Cys726Tyr
NM_001137553.2:c.2009G>A	NP_001131025.1:p.Cys670Tyr
NM_004735.4:c.2105G>A	NP_004726.2:p.Cys702Tyr
NM_001137551.2:c.721+3685G>A	NP_001131023.1:n.721+3685G>A