Canonical Allele Identifier: CA431937412

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672573T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763930T>C , CM000664.2:g.237763930T>C	GRCh38
NC_000002.11:g.238672573T>C , CM000664.1:g.238672573T>C	GRCh37
NC_000002.10:g.238337312T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3725T>C
ENST00000698098.1:c.955+3725T>C	ENSP00000513562.1:n.955+3725T>C
ENST00000308482.14:c.1459+3725T>C MANE Select	ENSP00000310109.9:n.1459+3725T>C
ENST00000244815.9:c.2145T>C	ENSP00000244815.5:p.Ser715=
ENST00000289175.10:c.2049T>C	ENSP00000289175.6:p.Ser683=
ENST00000308482.13:c.1459+3725T>C	ENSP00000310109.9:n.1459+3725T>C
ENST00000392000.4:c.2217T>C	ENSP00000375857.4:p.Ser739=
ENST00000483443.1:n.235+3725T>C
NM_001137550.1:c.1459+3725T>C	NP_001131022.1:n.1459+3725T>C
NM_001137551.1:c.721+3725T>C	NP_001131023.1:n.721+3725T>C
NM_001137552.1:c.2217T>C	NP_001131024.1:p.Ser739=
NM_001137553.1:c.2049T>C	NP_001131025.1:p.Ser683=
NM_004735.3:c.2145T>C	NP_004726.2:p.Ser715=
XM_005246112.3:c.2850T>C	XP_005246169.1:p.Ser950=
XM_005246115.3:c.2805T>C	XP_005246172.1:p.Ser935=
XM_005246116.3:c.2787T>C	XP_005246173.1:p.Ser929=
XM_005246118.3:c.2742T>C	XP_005246175.1:p.Ser914=
XM_005246119.3:c.2739T>C	XP_005246176.1:p.Ser913=
XM_005246120.3:c.2703T>C	XP_005246177.1:p.Ser901=
XM_005246121.3:c.2688T>C	XP_005246178.1:p.Ser896=
XM_005246122.3:c.2676T>C	XP_005246179.1:p.Ser892=
XM_005246124.1:c.2658T>C	XP_005246181.1:p.Ser886=
XM_005246125.3:c.2637T>C	XP_005246182.1:p.Ser879=
XM_005246126.3:c.2598T>C	XP_005246183.1:p.Ser866=
XM_005246128.1:c.2565T>C	XP_005246185.1:p.Ser855=
XM_005246129.3:c.2526T>C	XP_005246186.1:p.Ser842=
XM_005246130.3:c.2499T>C	XP_005246187.1:p.Ser833=
XM_005246131.3:c.2412T>C	XP_005246188.1:p.Ser804=
XM_005246132.3:c.2337T>C	XP_005246189.1:p.Ser779=
XM_005246133.1:c.2307T>C	XP_005246190.1:p.Ser769=
XM_005246134.1:c.2265T>C	XP_005246191.1:p.Ser755=
XM_005246135.1:c.2235T>C	XP_005246192.1:p.Ser745=
XM_005246136.1:c.2079T>C	XP_005246193.1:p.Ser693=
XM_005246141.3:c.823+3725T>C	XP_005246198.1:n.823+3725T>C
XM_005246142.1:c.751+3725T>C	XP_005246199.1:n.751+3725T>C
XM_006712842.2:c.2748T>C	XP_006712905.1:p.Ser916=
XM_006712843.2:c.2643T>C	XP_006712906.1:p.Ser881=
XM_006712844.1:c.2577T>C	XP_006712907.1:p.Ser859=
XM_006712845.2:c.2559T>C	XP_006712908.1:p.Ser853=
XM_006712846.1:c.2463T>C	XP_006712909.1:p.Ser821=
XM_006712847.1:c.2403T>C	XP_006712910.1:p.Ser801=
XM_006712848.1:c.2331T>C	XP_006712911.1:p.Ser777=
XM_011512152.1:c.2883T>C	XP_011510454.1:p.Ser961=
XM_011512153.1:c.2865T>C	XP_011510455.1:p.Ser955=
XM_011512154.1:c.2853T>C	XP_011510456.1:p.Ser951=
XM_011512155.1:c.2844T>C	XP_011510457.1:p.Ser948=
XM_011512156.1:c.2811T>C	XP_011510458.1:p.Ser937=
XM_011512157.1:c.2697T>C	XP_011510459.1:p.Ser899=
XM_011512158.1:c.2625T>C	XP_011510460.1:p.Ser875=
XM_011512159.1:c.2433T>C	XP_011510461.1:p.Ser811=
XM_011512160.1:c.1555+3725T>C	XP_011510462.1:n.1555+3725T>C
XM_011512161.1:c.1555+3725T>C	XP_011510463.1:n.1555+3725T>C
XM_011512162.1:c.1369+3725T>C	XP_011510464.1:n.1369+3725T>C
XM_011512163.1:c.1297+3725T>C	XP_011510465.1:n.1297+3725T>C
XM_011512164.1:c.751+3725T>C	XP_011510466.1:n.751+3725T>C
XM_011512165.1:c.721+3725T>C	XP_011510467.1:n.721+3725T>C
XM_011512166.1:c.1516+3725T>C	XP_011510468.1:n.1516+3725T>C
XR_923063.1:n.1605+3725T>C
XM_005246141.4:c.823+3725T>C	XP_005246198.1:n.823+3725T>C
XM_005246142.2:c.751+3725T>C	XP_005246199.1:n.751+3725T>C
XM_017005253.2:c.1522+3725T>C	XP_016860742.1:n.1522+3725T>C
XM_017005254.2:c.1522+3725T>C	XP_016860743.1:n.1522+3725T>C
XM_017005255.2:c.1450+3725T>C	XP_016860744.1:n.1450+3725T>C
XM_017005256.2:c.1336+3725T>C	XP_016860745.1:n.1336+3725T>C
XM_017005257.2:c.1387+3725T>C	XP_016860746.1:n.1387+3725T>C
XM_017005258.2:c.1336+3725T>C	XP_016860747.1:n.1336+3725T>C
XM_017005260.2:c.1162+3725T>C	XP_016860749.1:n.1162+3725T>C
XM_017005261.2:c.1099+3725T>C	XP_016860750.1:n.1099+3725T>C
XM_017005262.2:c.1099+3725T>C	XP_016860751.1:n.1099+3725T>C
XM_017005263.2:c.937+3725T>C	XP_016860752.1:n.937+3725T>C
XR_001739039.2:n.2919T>C
XR_001739040.1:n.3084T>C
XR_001739041.2:n.2880T>C
XR_001739042.2:n.2856T>C
XR_001739043.1:n.2832T>C
XR_001739044.2:n.2847T>C
XR_001739045.2:n.2817T>C
XR_001739046.1:n.3164T>C
XR_001739047.2:n.2733T>C
XR_001739048.1:n.2922T>C
XR_001739049.2:n.2667T>C
XR_001739050.2:n.2628T>C
XR_001739051.2:n.2595T>C
XR_001739052.2:n.2568T>C
XR_001739053.1:n.2557T>C
XR_001739054.1:n.2479T>C
XR_001739055.2:n.2496T>C
XR_001739056.2:n.2481T>C
XR_001739057.1:n.2497T>C
XR_001739058.1:n.2676T>C
XR_001739059.2:n.2409T>C
XR_001739060.1:n.2383T>C
XR_001739061.1:n.2425T>C
XR_001739062.1:n.2602T>C
XR_001739063.1:n.2309T>C
XR_001739064.1:n.2570T>C
XR_001739065.1:n.2514T>C
XR_001739066.1:n.2311T>C
XR_001739067.1:n.2218T>C
XR_001739068.1:n.2239T>C
XR_001739069.1:n.2416T>C
XR_001739070.1:n.2280T>C
XR_001739071.1:n.2138T>C
XR_001739072.1:n.2384T>C
XR_001739073.2:n.1591+3725T>C
XR_002959364.1:n.2310T>C
NM_001137550.2:c.1459+3725T>C MANE Select	NP_001131022.1:n.1459+3725T>C
NM_001137552.2:c.2217T>C	NP_001131024.1:p.Ser739=
NM_001137553.2:c.2049T>C	NP_001131025.1:p.Ser683=
NM_004735.4:c.2145T>C	NP_004726.2:p.Ser715=
NM_001137551.2:c.721+3725T>C	NP_001131023.1:n.721+3725T>C