Canonical Allele Identifier: CA351204656

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs1375943779
• gnomAD v2: 2-238672554-G-C
• MyVariant Identifiers: chr2:g.238672554G>C (hg19) ; chr2:g.237763911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763911G>C , CM000664.2:g.237763911G>C	GRCh38
NC_000002.11:g.238672554G>C , CM000664.1:g.238672554G>C	GRCh37
NC_000002.10:g.238337293G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3706G>C
ENST00000698098.1:c.955+3706G>C	ENSP00000513562.1:n.955+3706G>C
ENST00000308482.14:c.1459+3706G>C MANE Select	ENSP00000310109.9:n.1459+3706G>C
ENST00000244815.9:c.2126G>C	ENSP00000244815.5:p.Ser709Thr
ENST00000289175.10:c.2030G>C	ENSP00000289175.6:p.Ser677Thr
ENST00000308482.13:c.1459+3706G>C	ENSP00000310109.9:n.1459+3706G>C
ENST00000392000.4:c.2198G>C	ENSP00000375857.4:p.Ser733Thr
ENST00000483443.1:n.235+3706G>C
NM_001137550.1:c.1459+3706G>C	NP_001131022.1:n.1459+3706G>C
NM_001137551.1:c.721+3706G>C	NP_001131023.1:n.721+3706G>C
NM_001137552.1:c.2198G>C	NP_001131024.1:p.Ser733Thr
NM_001137553.1:c.2030G>C	NP_001131025.1:p.Ser677Thr
NM_004735.3:c.2126G>C	NP_004726.2:p.Ser709Thr
XM_005246112.3:c.2831G>C	XP_005246169.1:p.Ser944Thr
XM_005246115.3:c.2786G>C	XP_005246172.1:p.Ser929Thr
XM_005246116.3:c.2768G>C	XP_005246173.1:p.Ser923Thr
XM_005246118.3:c.2723G>C	XP_005246175.1:p.Ser908Thr
XM_005246119.3:c.2720G>C	XP_005246176.1:p.Ser907Thr
XM_005246120.3:c.2684G>C	XP_005246177.1:p.Ser895Thr
XM_005246121.3:c.2669G>C	XP_005246178.1:p.Ser890Thr
XM_005246122.3:c.2657G>C	XP_005246179.1:p.Ser886Thr
XM_005246124.1:c.2639G>C	XP_005246181.1:p.Ser880Thr
XM_005246125.3:c.2618G>C	XP_005246182.1:p.Ser873Thr
XM_005246126.3:c.2579G>C	XP_005246183.1:p.Ser860Thr
XM_005246128.1:c.2546G>C	XP_005246185.1:p.Ser849Thr
XM_005246129.3:c.2507G>C	XP_005246186.1:p.Ser836Thr
XM_005246130.3:c.2480G>C	XP_005246187.1:p.Ser827Thr
XM_005246131.3:c.2393G>C	XP_005246188.1:p.Ser798Thr
XM_005246132.3:c.2318G>C	XP_005246189.1:p.Ser773Thr
XM_005246133.1:c.2288G>C	XP_005246190.1:p.Ser763Thr
XM_005246134.1:c.2246G>C	XP_005246191.1:p.Ser749Thr
XM_005246135.1:c.2216G>C	XP_005246192.1:p.Ser739Thr
XM_005246136.1:c.2060G>C	XP_005246193.1:p.Ser687Thr
XM_005246141.3:c.823+3706G>C	XP_005246198.1:n.823+3706G>C
XM_005246142.1:c.751+3706G>C	XP_005246199.1:n.751+3706G>C
XM_006712842.2:c.2729G>C	XP_006712905.1:p.Ser910Thr
XM_006712843.2:c.2624G>C	XP_006712906.1:p.Ser875Thr
XM_006712844.1:c.2558G>C	XP_006712907.1:p.Ser853Thr
XM_006712845.2:c.2540G>C	XP_006712908.1:p.Ser847Thr
XM_006712846.1:c.2444G>C	XP_006712909.1:p.Ser815Thr
XM_006712847.1:c.2384G>C	XP_006712910.1:p.Ser795Thr
XM_006712848.1:c.2312G>C	XP_006712911.1:p.Ser771Thr
XM_011512152.1:c.2864G>C	XP_011510454.1:p.Ser955Thr
XM_011512153.1:c.2846G>C	XP_011510455.1:p.Ser949Thr
XM_011512154.1:c.2834G>C	XP_011510456.1:p.Ser945Thr
XM_011512155.1:c.2825G>C	XP_011510457.1:p.Ser942Thr
XM_011512156.1:c.2792G>C	XP_011510458.1:p.Ser931Thr
XM_011512157.1:c.2678G>C	XP_011510459.1:p.Ser893Thr
XM_011512158.1:c.2606G>C	XP_011510460.1:p.Ser869Thr
XM_011512159.1:c.2414G>C	XP_011510461.1:p.Ser805Thr
XM_011512160.1:c.1555+3706G>C	XP_011510462.1:n.1555+3706G>C
XM_011512161.1:c.1555+3706G>C	XP_011510463.1:n.1555+3706G>C
XM_011512162.1:c.1369+3706G>C	XP_011510464.1:n.1369+3706G>C
XM_011512163.1:c.1297+3706G>C	XP_011510465.1:n.1297+3706G>C
XM_011512164.1:c.751+3706G>C	XP_011510466.1:n.751+3706G>C
XM_011512165.1:c.721+3706G>C	XP_011510467.1:n.721+3706G>C
XM_011512166.1:c.1516+3706G>C	XP_011510468.1:n.1516+3706G>C
XR_923063.1:n.1605+3706G>C
XM_005246141.4:c.823+3706G>C	XP_005246198.1:n.823+3706G>C
XM_005246142.2:c.751+3706G>C	XP_005246199.1:n.751+3706G>C
XM_017005253.2:c.1522+3706G>C	XP_016860742.1:n.1522+3706G>C
XM_017005254.2:c.1522+3706G>C	XP_016860743.1:n.1522+3706G>C
XM_017005255.2:c.1450+3706G>C	XP_016860744.1:n.1450+3706G>C
XM_017005256.2:c.1336+3706G>C	XP_016860745.1:n.1336+3706G>C
XM_017005257.2:c.1387+3706G>C	XP_016860746.1:n.1387+3706G>C
XM_017005258.2:c.1336+3706G>C	XP_016860747.1:n.1336+3706G>C
XM_017005260.2:c.1162+3706G>C	XP_016860749.1:n.1162+3706G>C
XM_017005261.2:c.1099+3706G>C	XP_016860750.1:n.1099+3706G>C
XM_017005262.2:c.1099+3706G>C	XP_016860751.1:n.1099+3706G>C
XM_017005263.2:c.937+3706G>C	XP_016860752.1:n.937+3706G>C
XR_001739039.2:n.2900G>C
XR_001739040.1:n.3065G>C
XR_001739041.2:n.2861G>C
XR_001739042.2:n.2837G>C
XR_001739043.1:n.2813G>C
XR_001739044.2:n.2828G>C
XR_001739045.2:n.2798G>C
XR_001739046.1:n.3145G>C
XR_001739047.2:n.2714G>C
XR_001739048.1:n.2903G>C
XR_001739049.2:n.2648G>C
XR_001739050.2:n.2609G>C
XR_001739051.2:n.2576G>C
XR_001739052.2:n.2549G>C
XR_001739053.1:n.2538G>C
XR_001739054.1:n.2460G>C
XR_001739055.2:n.2477G>C
XR_001739056.2:n.2462G>C
XR_001739057.1:n.2478G>C
XR_001739058.1:n.2657G>C
XR_001739059.2:n.2390G>C
XR_001739060.1:n.2364G>C
XR_001739061.1:n.2406G>C
XR_001739062.1:n.2583G>C
XR_001739063.1:n.2290G>C
XR_001739064.1:n.2551G>C
XR_001739065.1:n.2495G>C
XR_001739066.1:n.2292G>C
XR_001739067.1:n.2199G>C
XR_001739068.1:n.2220G>C
XR_001739069.1:n.2397G>C
XR_001739070.1:n.2261G>C
XR_001739071.1:n.2119G>C
XR_001739072.1:n.2365G>C
XR_001739073.2:n.1591+3706G>C
XR_002959364.1:n.2291G>C
NM_001137550.2:c.1459+3706G>C MANE Select	NP_001131022.1:n.1459+3706G>C
NM_001137552.2:c.2198G>C	NP_001131024.1:p.Ser733Thr
NM_001137553.2:c.2030G>C	NP_001131025.1:p.Ser677Thr
NM_004735.4:c.2126G>C	NP_004726.2:p.Ser709Thr
NM_001137551.2:c.721+3706G>C	NP_001131023.1:n.721+3706G>C