Canonical Allele Identifier: CA351204719

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672571A>C (hg19) ; chr2:g.237763928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763928A>C , CM000664.2:g.237763928A>C	GRCh38
NC_000002.11:g.238672571A>C , CM000664.1:g.238672571A>C	GRCh37
NC_000002.10:g.238337310A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3723A>C
ENST00000698098.1:c.955+3723A>C	ENSP00000513562.1:n.955+3723A>C
ENST00000308482.14:c.1459+3723A>C MANE Select	ENSP00000310109.9:n.1459+3723A>C
ENST00000244815.9:c.2143A>C	ENSP00000244815.5:p.Ser715Arg
ENST00000289175.10:c.2047A>C	ENSP00000289175.6:p.Ser683Arg
ENST00000308482.13:c.1459+3723A>C	ENSP00000310109.9:n.1459+3723A>C
ENST00000392000.4:c.2215A>C	ENSP00000375857.4:p.Ser739Arg
ENST00000483443.1:n.235+3723A>C
NM_001137550.1:c.1459+3723A>C	NP_001131022.1:n.1459+3723A>C
NM_001137551.1:c.721+3723A>C	NP_001131023.1:n.721+3723A>C
NM_001137552.1:c.2215A>C	NP_001131024.1:p.Ser739Arg
NM_001137553.1:c.2047A>C	NP_001131025.1:p.Ser683Arg
NM_004735.3:c.2143A>C	NP_004726.2:p.Ser715Arg
XM_005246112.3:c.2848A>C	XP_005246169.1:p.Ser950Arg
XM_005246115.3:c.2803A>C	XP_005246172.1:p.Ser935Arg
XM_005246116.3:c.2785A>C	XP_005246173.1:p.Ser929Arg
XM_005246118.3:c.2740A>C	XP_005246175.1:p.Ser914Arg
XM_005246119.3:c.2737A>C	XP_005246176.1:p.Ser913Arg
XM_005246120.3:c.2701A>C	XP_005246177.1:p.Ser901Arg
XM_005246121.3:c.2686A>C	XP_005246178.1:p.Ser896Arg
XM_005246122.3:c.2674A>C	XP_005246179.1:p.Ser892Arg
XM_005246124.1:c.2656A>C	XP_005246181.1:p.Ser886Arg
XM_005246125.3:c.2635A>C	XP_005246182.1:p.Ser879Arg
XM_005246126.3:c.2596A>C	XP_005246183.1:p.Ser866Arg
XM_005246128.1:c.2563A>C	XP_005246185.1:p.Ser855Arg
XM_005246129.3:c.2524A>C	XP_005246186.1:p.Ser842Arg
XM_005246130.3:c.2497A>C	XP_005246187.1:p.Ser833Arg
XM_005246131.3:c.2410A>C	XP_005246188.1:p.Ser804Arg
XM_005246132.3:c.2335A>C	XP_005246189.1:p.Ser779Arg
XM_005246133.1:c.2305A>C	XP_005246190.1:p.Ser769Arg
XM_005246134.1:c.2263A>C	XP_005246191.1:p.Ser755Arg
XM_005246135.1:c.2233A>C	XP_005246192.1:p.Ser745Arg
XM_005246136.1:c.2077A>C	XP_005246193.1:p.Ser693Arg
XM_005246141.3:c.823+3723A>C	XP_005246198.1:n.823+3723A>C
XM_005246142.1:c.751+3723A>C	XP_005246199.1:n.751+3723A>C
XM_006712842.2:c.2746A>C	XP_006712905.1:p.Ser916Arg
XM_006712843.2:c.2641A>C	XP_006712906.1:p.Ser881Arg
XM_006712844.1:c.2575A>C	XP_006712907.1:p.Ser859Arg
XM_006712845.2:c.2557A>C	XP_006712908.1:p.Ser853Arg
XM_006712846.1:c.2461A>C	XP_006712909.1:p.Ser821Arg
XM_006712847.1:c.2401A>C	XP_006712910.1:p.Ser801Arg
XM_006712848.1:c.2329A>C	XP_006712911.1:p.Ser777Arg
XM_011512152.1:c.2881A>C	XP_011510454.1:p.Ser961Arg
XM_011512153.1:c.2863A>C	XP_011510455.1:p.Ser955Arg
XM_011512154.1:c.2851A>C	XP_011510456.1:p.Ser951Arg
XM_011512155.1:c.2842A>C	XP_011510457.1:p.Ser948Arg
XM_011512156.1:c.2809A>C	XP_011510458.1:p.Ser937Arg
XM_011512157.1:c.2695A>C	XP_011510459.1:p.Ser899Arg
XM_011512158.1:c.2623A>C	XP_011510460.1:p.Ser875Arg
XM_011512159.1:c.2431A>C	XP_011510461.1:p.Ser811Arg
XM_011512160.1:c.1555+3723A>C	XP_011510462.1:n.1555+3723A>C
XM_011512161.1:c.1555+3723A>C	XP_011510463.1:n.1555+3723A>C
XM_011512162.1:c.1369+3723A>C	XP_011510464.1:n.1369+3723A>C
XM_011512163.1:c.1297+3723A>C	XP_011510465.1:n.1297+3723A>C
XM_011512164.1:c.751+3723A>C	XP_011510466.1:n.751+3723A>C
XM_011512165.1:c.721+3723A>C	XP_011510467.1:n.721+3723A>C
XM_011512166.1:c.1516+3723A>C	XP_011510468.1:n.1516+3723A>C
XR_923063.1:n.1605+3723A>C
XM_005246141.4:c.823+3723A>C	XP_005246198.1:n.823+3723A>C
XM_005246142.2:c.751+3723A>C	XP_005246199.1:n.751+3723A>C
XM_017005253.2:c.1522+3723A>C	XP_016860742.1:n.1522+3723A>C
XM_017005254.2:c.1522+3723A>C	XP_016860743.1:n.1522+3723A>C
XM_017005255.2:c.1450+3723A>C	XP_016860744.1:n.1450+3723A>C
XM_017005256.2:c.1336+3723A>C	XP_016860745.1:n.1336+3723A>C
XM_017005257.2:c.1387+3723A>C	XP_016860746.1:n.1387+3723A>C
XM_017005258.2:c.1336+3723A>C	XP_016860747.1:n.1336+3723A>C
XM_017005260.2:c.1162+3723A>C	XP_016860749.1:n.1162+3723A>C
XM_017005261.2:c.1099+3723A>C	XP_016860750.1:n.1099+3723A>C
XM_017005262.2:c.1099+3723A>C	XP_016860751.1:n.1099+3723A>C
XM_017005263.2:c.937+3723A>C	XP_016860752.1:n.937+3723A>C
XR_001739039.2:n.2917A>C
XR_001739040.1:n.3082A>C
XR_001739041.2:n.2878A>C
XR_001739042.2:n.2854A>C
XR_001739043.1:n.2830A>C
XR_001739044.2:n.2845A>C
XR_001739045.2:n.2815A>C
XR_001739046.1:n.3162A>C
XR_001739047.2:n.2731A>C
XR_001739048.1:n.2920A>C
XR_001739049.2:n.2665A>C
XR_001739050.2:n.2626A>C
XR_001739051.2:n.2593A>C
XR_001739052.2:n.2566A>C
XR_001739053.1:n.2555A>C
XR_001739054.1:n.2477A>C
XR_001739055.2:n.2494A>C
XR_001739056.2:n.2479A>C
XR_001739057.1:n.2495A>C
XR_001739058.1:n.2674A>C
XR_001739059.2:n.2407A>C
XR_001739060.1:n.2381A>C
XR_001739061.1:n.2423A>C
XR_001739062.1:n.2600A>C
XR_001739063.1:n.2307A>C
XR_001739064.1:n.2568A>C
XR_001739065.1:n.2512A>C
XR_001739066.1:n.2309A>C
XR_001739067.1:n.2216A>C
XR_001739068.1:n.2237A>C
XR_001739069.1:n.2414A>C
XR_001739070.1:n.2278A>C
XR_001739071.1:n.2136A>C
XR_001739072.1:n.2382A>C
XR_001739073.2:n.1591+3723A>C
XR_002959364.1:n.2308A>C
NM_001137550.2:c.1459+3723A>C MANE Select	NP_001131022.1:n.1459+3723A>C
NM_001137552.2:c.2215A>C	NP_001131024.1:p.Ser739Arg
NM_001137553.2:c.2047A>C	NP_001131025.1:p.Ser683Arg
NM_004735.4:c.2143A>C	NP_004726.2:p.Ser715Arg
NM_001137551.2:c.721+3723A>C	NP_001131023.1:n.721+3723A>C