Canonical Allele Identifier: CA431937262

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672540G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763897G>C , CM000664.2:g.237763897G>C	GRCh38
NC_000002.11:g.238672540G>C , CM000664.1:g.238672540G>C	GRCh37
NC_000002.10:g.238337279G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3692G>C
ENST00000698098.1:c.955+3692G>C	ENSP00000513562.1:n.955+3692G>C
ENST00000308482.14:c.1459+3692G>C MANE Select	ENSP00000310109.9:n.1459+3692G>C
ENST00000244815.9:c.2112G>C	ENSP00000244815.5:p.Leu704=
ENST00000289175.10:c.2016G>C	ENSP00000289175.6:p.Leu672=
ENST00000308482.13:c.1459+3692G>C	ENSP00000310109.9:n.1459+3692G>C
ENST00000392000.4:c.2184G>C	ENSP00000375857.4:p.Leu728=
ENST00000483443.1:n.235+3692G>C
NM_001137550.1:c.1459+3692G>C	NP_001131022.1:n.1459+3692G>C
NM_001137551.1:c.721+3692G>C	NP_001131023.1:n.721+3692G>C
NM_001137552.1:c.2184G>C	NP_001131024.1:p.Leu728=
NM_001137553.1:c.2016G>C	NP_001131025.1:p.Leu672=
NM_004735.3:c.2112G>C	NP_004726.2:p.Leu704=
XM_005246112.3:c.2817G>C	XP_005246169.1:p.Leu939=
XM_005246115.3:c.2772G>C	XP_005246172.1:p.Leu924=
XM_005246116.3:c.2754G>C	XP_005246173.1:p.Leu918=
XM_005246118.3:c.2709G>C	XP_005246175.1:p.Leu903=
XM_005246119.3:c.2706G>C	XP_005246176.1:p.Leu902=
XM_005246120.3:c.2670G>C	XP_005246177.1:p.Leu890=
XM_005246121.3:c.2655G>C	XP_005246178.1:p.Leu885=
XM_005246122.3:c.2643G>C	XP_005246179.1:p.Leu881=
XM_005246124.1:c.2625G>C	XP_005246181.1:p.Leu875=
XM_005246125.3:c.2604G>C	XP_005246182.1:p.Leu868=
XM_005246126.3:c.2565G>C	XP_005246183.1:p.Leu855=
XM_005246128.1:c.2532G>C	XP_005246185.1:p.Leu844=
XM_005246129.3:c.2493G>C	XP_005246186.1:p.Leu831=
XM_005246130.3:c.2466G>C	XP_005246187.1:p.Leu822=
XM_005246131.3:c.2379G>C	XP_005246188.1:p.Leu793=
XM_005246132.3:c.2304G>C	XP_005246189.1:p.Leu768=
XM_005246133.1:c.2274G>C	XP_005246190.1:p.Leu758=
XM_005246134.1:c.2232G>C	XP_005246191.1:p.Leu744=
XM_005246135.1:c.2202G>C	XP_005246192.1:p.Leu734=
XM_005246136.1:c.2046G>C	XP_005246193.1:p.Leu682=
XM_005246141.3:c.823+3692G>C	XP_005246198.1:n.823+3692G>C
XM_005246142.1:c.751+3692G>C	XP_005246199.1:n.751+3692G>C
XM_006712842.2:c.2715G>C	XP_006712905.1:p.Leu905=
XM_006712843.2:c.2610G>C	XP_006712906.1:p.Leu870=
XM_006712844.1:c.2544G>C	XP_006712907.1:p.Leu848=
XM_006712845.2:c.2526G>C	XP_006712908.1:p.Leu842=
XM_006712846.1:c.2430G>C	XP_006712909.1:p.Leu810=
XM_006712847.1:c.2370G>C	XP_006712910.1:p.Leu790=
XM_006712848.1:c.2298G>C	XP_006712911.1:p.Leu766=
XM_011512152.1:c.2850G>C	XP_011510454.1:p.Leu950=
XM_011512153.1:c.2832G>C	XP_011510455.1:p.Leu944=
XM_011512154.1:c.2820G>C	XP_011510456.1:p.Leu940=
XM_011512155.1:c.2811G>C	XP_011510457.1:p.Leu937=
XM_011512156.1:c.2778G>C	XP_011510458.1:p.Leu926=
XM_011512157.1:c.2664G>C	XP_011510459.1:p.Leu888=
XM_011512158.1:c.2592G>C	XP_011510460.1:p.Leu864=
XM_011512159.1:c.2400G>C	XP_011510461.1:p.Leu800=
XM_011512160.1:c.1555+3692G>C	XP_011510462.1:n.1555+3692G>C
XM_011512161.1:c.1555+3692G>C	XP_011510463.1:n.1555+3692G>C
XM_011512162.1:c.1369+3692G>C	XP_011510464.1:n.1369+3692G>C
XM_011512163.1:c.1297+3692G>C	XP_011510465.1:n.1297+3692G>C
XM_011512164.1:c.751+3692G>C	XP_011510466.1:n.751+3692G>C
XM_011512165.1:c.721+3692G>C	XP_011510467.1:n.721+3692G>C
XM_011512166.1:c.1516+3692G>C	XP_011510468.1:n.1516+3692G>C
XR_923063.1:n.1605+3692G>C
XM_005246141.4:c.823+3692G>C	XP_005246198.1:n.823+3692G>C
XM_005246142.2:c.751+3692G>C	XP_005246199.1:n.751+3692G>C
XM_017005253.2:c.1522+3692G>C	XP_016860742.1:n.1522+3692G>C
XM_017005254.2:c.1522+3692G>C	XP_016860743.1:n.1522+3692G>C
XM_017005255.2:c.1450+3692G>C	XP_016860744.1:n.1450+3692G>C
XM_017005256.2:c.1336+3692G>C	XP_016860745.1:n.1336+3692G>C
XM_017005257.2:c.1387+3692G>C	XP_016860746.1:n.1387+3692G>C
XM_017005258.2:c.1336+3692G>C	XP_016860747.1:n.1336+3692G>C
XM_017005260.2:c.1162+3692G>C	XP_016860749.1:n.1162+3692G>C
XM_017005261.2:c.1099+3692G>C	XP_016860750.1:n.1099+3692G>C
XM_017005262.2:c.1099+3692G>C	XP_016860751.1:n.1099+3692G>C
XM_017005263.2:c.937+3692G>C	XP_016860752.1:n.937+3692G>C
XR_001739039.2:n.2886G>C
XR_001739040.1:n.3051G>C
XR_001739041.2:n.2847G>C
XR_001739042.2:n.2823G>C
XR_001739043.1:n.2799G>C
XR_001739044.2:n.2814G>C
XR_001739045.2:n.2784G>C
XR_001739046.1:n.3131G>C
XR_001739047.2:n.2700G>C
XR_001739048.1:n.2889G>C
XR_001739049.2:n.2634G>C
XR_001739050.2:n.2595G>C
XR_001739051.2:n.2562G>C
XR_001739052.2:n.2535G>C
XR_001739053.1:n.2524G>C
XR_001739054.1:n.2446G>C
XR_001739055.2:n.2463G>C
XR_001739056.2:n.2448G>C
XR_001739057.1:n.2464G>C
XR_001739058.1:n.2643G>C
XR_001739059.2:n.2376G>C
XR_001739060.1:n.2350G>C
XR_001739061.1:n.2392G>C
XR_001739062.1:n.2569G>C
XR_001739063.1:n.2276G>C
XR_001739064.1:n.2537G>C
XR_001739065.1:n.2481G>C
XR_001739066.1:n.2278G>C
XR_001739067.1:n.2185G>C
XR_001739068.1:n.2206G>C
XR_001739069.1:n.2383G>C
XR_001739070.1:n.2247G>C
XR_001739071.1:n.2105G>C
XR_001739072.1:n.2351G>C
XR_001739073.2:n.1591+3692G>C
XR_002959364.1:n.2277G>C
NM_001137550.2:c.1459+3692G>C MANE Select	NP_001131022.1:n.1459+3692G>C
NM_001137552.2:c.2184G>C	NP_001131024.1:p.Leu728=
NM_001137553.2:c.2016G>C	NP_001131025.1:p.Leu672=
NM_004735.4:c.2112G>C	NP_004726.2:p.Leu704=
NM_001137551.2:c.721+3692G>C	NP_001131023.1:n.721+3692G>C