Canonical Allele Identifier: CA351204724

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672572G>T (hg19) ; chr2:g.237763929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763929G>T , CM000664.2:g.237763929G>T	GRCh38
NC_000002.11:g.238672572G>T , CM000664.1:g.238672572G>T	GRCh37
NC_000002.10:g.238337311G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3724G>T
ENST00000698098.1:c.955+3724G>T	ENSP00000513562.1:n.955+3724G>T
ENST00000308482.14:c.1459+3724G>T MANE Select	ENSP00000310109.9:n.1459+3724G>T
ENST00000244815.9:c.2144G>T	ENSP00000244815.5:p.Ser715Ile
ENST00000289175.10:c.2048G>T	ENSP00000289175.6:p.Ser683Ile
ENST00000308482.13:c.1459+3724G>T	ENSP00000310109.9:n.1459+3724G>T
ENST00000392000.4:c.2216G>T	ENSP00000375857.4:p.Ser739Ile
ENST00000483443.1:n.235+3724G>T
NM_001137550.1:c.1459+3724G>T	NP_001131022.1:n.1459+3724G>T
NM_001137551.1:c.721+3724G>T	NP_001131023.1:n.721+3724G>T
NM_001137552.1:c.2216G>T	NP_001131024.1:p.Ser739Ile
NM_001137553.1:c.2048G>T	NP_001131025.1:p.Ser683Ile
NM_004735.3:c.2144G>T	NP_004726.2:p.Ser715Ile
XM_005246112.3:c.2849G>T	XP_005246169.1:p.Ser950Ile
XM_005246115.3:c.2804G>T	XP_005246172.1:p.Ser935Ile
XM_005246116.3:c.2786G>T	XP_005246173.1:p.Ser929Ile
XM_005246118.3:c.2741G>T	XP_005246175.1:p.Ser914Ile
XM_005246119.3:c.2738G>T	XP_005246176.1:p.Ser913Ile
XM_005246120.3:c.2702G>T	XP_005246177.1:p.Ser901Ile
XM_005246121.3:c.2687G>T	XP_005246178.1:p.Ser896Ile
XM_005246122.3:c.2675G>T	XP_005246179.1:p.Ser892Ile
XM_005246124.1:c.2657G>T	XP_005246181.1:p.Ser886Ile
XM_005246125.3:c.2636G>T	XP_005246182.1:p.Ser879Ile
XM_005246126.3:c.2597G>T	XP_005246183.1:p.Ser866Ile
XM_005246128.1:c.2564G>T	XP_005246185.1:p.Ser855Ile
XM_005246129.3:c.2525G>T	XP_005246186.1:p.Ser842Ile
XM_005246130.3:c.2498G>T	XP_005246187.1:p.Ser833Ile
XM_005246131.3:c.2411G>T	XP_005246188.1:p.Ser804Ile
XM_005246132.3:c.2336G>T	XP_005246189.1:p.Ser779Ile
XM_005246133.1:c.2306G>T	XP_005246190.1:p.Ser769Ile
XM_005246134.1:c.2264G>T	XP_005246191.1:p.Ser755Ile
XM_005246135.1:c.2234G>T	XP_005246192.1:p.Ser745Ile
XM_005246136.1:c.2078G>T	XP_005246193.1:p.Ser693Ile
XM_005246141.3:c.823+3724G>T	XP_005246198.1:n.823+3724G>T
XM_005246142.1:c.751+3724G>T	XP_005246199.1:n.751+3724G>T
XM_006712842.2:c.2747G>T	XP_006712905.1:p.Ser916Ile
XM_006712843.2:c.2642G>T	XP_006712906.1:p.Ser881Ile
XM_006712844.1:c.2576G>T	XP_006712907.1:p.Ser859Ile
XM_006712845.2:c.2558G>T	XP_006712908.1:p.Ser853Ile
XM_006712846.1:c.2462G>T	XP_006712909.1:p.Ser821Ile
XM_006712847.1:c.2402G>T	XP_006712910.1:p.Ser801Ile
XM_006712848.1:c.2330G>T	XP_006712911.1:p.Ser777Ile
XM_011512152.1:c.2882G>T	XP_011510454.1:p.Ser961Ile
XM_011512153.1:c.2864G>T	XP_011510455.1:p.Ser955Ile
XM_011512154.1:c.2852G>T	XP_011510456.1:p.Ser951Ile
XM_011512155.1:c.2843G>T	XP_011510457.1:p.Ser948Ile
XM_011512156.1:c.2810G>T	XP_011510458.1:p.Ser937Ile
XM_011512157.1:c.2696G>T	XP_011510459.1:p.Ser899Ile
XM_011512158.1:c.2624G>T	XP_011510460.1:p.Ser875Ile
XM_011512159.1:c.2432G>T	XP_011510461.1:p.Ser811Ile
XM_011512160.1:c.1555+3724G>T	XP_011510462.1:n.1555+3724G>T
XM_011512161.1:c.1555+3724G>T	XP_011510463.1:n.1555+3724G>T
XM_011512162.1:c.1369+3724G>T	XP_011510464.1:n.1369+3724G>T
XM_011512163.1:c.1297+3724G>T	XP_011510465.1:n.1297+3724G>T
XM_011512164.1:c.751+3724G>T	XP_011510466.1:n.751+3724G>T
XM_011512165.1:c.721+3724G>T	XP_011510467.1:n.721+3724G>T
XM_011512166.1:c.1516+3724G>T	XP_011510468.1:n.1516+3724G>T
XR_923063.1:n.1605+3724G>T
XM_005246141.4:c.823+3724G>T	XP_005246198.1:n.823+3724G>T
XM_005246142.2:c.751+3724G>T	XP_005246199.1:n.751+3724G>T
XM_017005253.2:c.1522+3724G>T	XP_016860742.1:n.1522+3724G>T
XM_017005254.2:c.1522+3724G>T	XP_016860743.1:n.1522+3724G>T
XM_017005255.2:c.1450+3724G>T	XP_016860744.1:n.1450+3724G>T
XM_017005256.2:c.1336+3724G>T	XP_016860745.1:n.1336+3724G>T
XM_017005257.2:c.1387+3724G>T	XP_016860746.1:n.1387+3724G>T
XM_017005258.2:c.1336+3724G>T	XP_016860747.1:n.1336+3724G>T
XM_017005260.2:c.1162+3724G>T	XP_016860749.1:n.1162+3724G>T
XM_017005261.2:c.1099+3724G>T	XP_016860750.1:n.1099+3724G>T
XM_017005262.2:c.1099+3724G>T	XP_016860751.1:n.1099+3724G>T
XM_017005263.2:c.937+3724G>T	XP_016860752.1:n.937+3724G>T
XR_001739039.2:n.2918G>T
XR_001739040.1:n.3083G>T
XR_001739041.2:n.2879G>T
XR_001739042.2:n.2855G>T
XR_001739043.1:n.2831G>T
XR_001739044.2:n.2846G>T
XR_001739045.2:n.2816G>T
XR_001739046.1:n.3163G>T
XR_001739047.2:n.2732G>T
XR_001739048.1:n.2921G>T
XR_001739049.2:n.2666G>T
XR_001739050.2:n.2627G>T
XR_001739051.2:n.2594G>T
XR_001739052.2:n.2567G>T
XR_001739053.1:n.2556G>T
XR_001739054.1:n.2478G>T
XR_001739055.2:n.2495G>T
XR_001739056.2:n.2480G>T
XR_001739057.1:n.2496G>T
XR_001739058.1:n.2675G>T
XR_001739059.2:n.2408G>T
XR_001739060.1:n.2382G>T
XR_001739061.1:n.2424G>T
XR_001739062.1:n.2601G>T
XR_001739063.1:n.2308G>T
XR_001739064.1:n.2569G>T
XR_001739065.1:n.2513G>T
XR_001739066.1:n.2310G>T
XR_001739067.1:n.2217G>T
XR_001739068.1:n.2238G>T
XR_001739069.1:n.2415G>T
XR_001739070.1:n.2279G>T
XR_001739071.1:n.2137G>T
XR_001739072.1:n.2383G>T
XR_001739073.2:n.1591+3724G>T
XR_002959364.1:n.2309G>T
NM_001137550.2:c.1459+3724G>T MANE Select	NP_001131022.1:n.1459+3724G>T
NM_001137552.2:c.2216G>T	NP_001131024.1:p.Ser739Ile
NM_001137553.2:c.2048G>T	NP_001131025.1:p.Ser683Ile
NM_004735.4:c.2144G>T	NP_004726.2:p.Ser715Ile
NM_001137551.2:c.721+3724G>T	NP_001131023.1:n.721+3724G>T