Canonical Allele Identifier: CA351204572

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672536C>A (hg19) ; chr2:g.237763893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763893C>A , CM000664.2:g.237763893C>A	GRCh38
NC_000002.11:g.238672536C>A , CM000664.1:g.238672536C>A	GRCh37
NC_000002.10:g.238337275C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3688C>A
ENST00000698098.1:c.955+3688C>A	ENSP00000513562.1:n.955+3688C>A
ENST00000308482.14:c.1459+3688C>A MANE Select	ENSP00000310109.9:n.1459+3688C>A
ENST00000244815.9:c.2108C>A	ENSP00000244815.5:p.Thr703Asn
ENST00000289175.10:c.2012C>A	ENSP00000289175.6:p.Thr671Asn
ENST00000308482.13:c.1459+3688C>A	ENSP00000310109.9:n.1459+3688C>A
ENST00000392000.4:c.2180C>A	ENSP00000375857.4:p.Thr727Asn
ENST00000483443.1:n.235+3688C>A
NM_001137550.1:c.1459+3688C>A	NP_001131022.1:n.1459+3688C>A
NM_001137551.1:c.721+3688C>A	NP_001131023.1:n.721+3688C>A
NM_001137552.1:c.2180C>A	NP_001131024.1:p.Thr727Asn
NM_001137553.1:c.2012C>A	NP_001131025.1:p.Thr671Asn
NM_004735.3:c.2108C>A	NP_004726.2:p.Thr703Asn
XM_005246112.3:c.2813C>A	XP_005246169.1:p.Thr938Asn
XM_005246115.3:c.2768C>A	XP_005246172.1:p.Thr923Asn
XM_005246116.3:c.2750C>A	XP_005246173.1:p.Thr917Asn
XM_005246118.3:c.2705C>A	XP_005246175.1:p.Thr902Asn
XM_005246119.3:c.2702C>A	XP_005246176.1:p.Thr901Asn
XM_005246120.3:c.2666C>A	XP_005246177.1:p.Thr889Asn
XM_005246121.3:c.2651C>A	XP_005246178.1:p.Thr884Asn
XM_005246122.3:c.2639C>A	XP_005246179.1:p.Thr880Asn
XM_005246124.1:c.2621C>A	XP_005246181.1:p.Thr874Asn
XM_005246125.3:c.2600C>A	XP_005246182.1:p.Thr867Asn
XM_005246126.3:c.2561C>A	XP_005246183.1:p.Thr854Asn
XM_005246128.1:c.2528C>A	XP_005246185.1:p.Thr843Asn
XM_005246129.3:c.2489C>A	XP_005246186.1:p.Thr830Asn
XM_005246130.3:c.2462C>A	XP_005246187.1:p.Thr821Asn
XM_005246131.3:c.2375C>A	XP_005246188.1:p.Thr792Asn
XM_005246132.3:c.2300C>A	XP_005246189.1:p.Thr767Asn
XM_005246133.1:c.2270C>A	XP_005246190.1:p.Thr757Asn
XM_005246134.1:c.2228C>A	XP_005246191.1:p.Thr743Asn
XM_005246135.1:c.2198C>A	XP_005246192.1:p.Thr733Asn
XM_005246136.1:c.2042C>A	XP_005246193.1:p.Thr681Asn
XM_005246141.3:c.823+3688C>A	XP_005246198.1:n.823+3688C>A
XM_005246142.1:c.751+3688C>A	XP_005246199.1:n.751+3688C>A
XM_006712842.2:c.2711C>A	XP_006712905.1:p.Thr904Asn
XM_006712843.2:c.2606C>A	XP_006712906.1:p.Thr869Asn
XM_006712844.1:c.2540C>A	XP_006712907.1:p.Thr847Asn
XM_006712845.2:c.2522C>A	XP_006712908.1:p.Thr841Asn
XM_006712846.1:c.2426C>A	XP_006712909.1:p.Thr809Asn
XM_006712847.1:c.2366C>A	XP_006712910.1:p.Thr789Asn
XM_006712848.1:c.2294C>A	XP_006712911.1:p.Thr765Asn
XM_011512152.1:c.2846C>A	XP_011510454.1:p.Thr949Asn
XM_011512153.1:c.2828C>A	XP_011510455.1:p.Thr943Asn
XM_011512154.1:c.2816C>A	XP_011510456.1:p.Thr939Asn
XM_011512155.1:c.2807C>A	XP_011510457.1:p.Thr936Asn
XM_011512156.1:c.2774C>A	XP_011510458.1:p.Thr925Asn
XM_011512157.1:c.2660C>A	XP_011510459.1:p.Thr887Asn
XM_011512158.1:c.2588C>A	XP_011510460.1:p.Thr863Asn
XM_011512159.1:c.2396C>A	XP_011510461.1:p.Thr799Asn
XM_011512160.1:c.1555+3688C>A	XP_011510462.1:n.1555+3688C>A
XM_011512161.1:c.1555+3688C>A	XP_011510463.1:n.1555+3688C>A
XM_011512162.1:c.1369+3688C>A	XP_011510464.1:n.1369+3688C>A
XM_011512163.1:c.1297+3688C>A	XP_011510465.1:n.1297+3688C>A
XM_011512164.1:c.751+3688C>A	XP_011510466.1:n.751+3688C>A
XM_011512165.1:c.721+3688C>A	XP_011510467.1:n.721+3688C>A
XM_011512166.1:c.1516+3688C>A	XP_011510468.1:n.1516+3688C>A
XR_923063.1:n.1605+3688C>A
XM_005246141.4:c.823+3688C>A	XP_005246198.1:n.823+3688C>A
XM_005246142.2:c.751+3688C>A	XP_005246199.1:n.751+3688C>A
XM_017005253.2:c.1522+3688C>A	XP_016860742.1:n.1522+3688C>A
XM_017005254.2:c.1522+3688C>A	XP_016860743.1:n.1522+3688C>A
XM_017005255.2:c.1450+3688C>A	XP_016860744.1:n.1450+3688C>A
XM_017005256.2:c.1336+3688C>A	XP_016860745.1:n.1336+3688C>A
XM_017005257.2:c.1387+3688C>A	XP_016860746.1:n.1387+3688C>A
XM_017005258.2:c.1336+3688C>A	XP_016860747.1:n.1336+3688C>A
XM_017005260.2:c.1162+3688C>A	XP_016860749.1:n.1162+3688C>A
XM_017005261.2:c.1099+3688C>A	XP_016860750.1:n.1099+3688C>A
XM_017005262.2:c.1099+3688C>A	XP_016860751.1:n.1099+3688C>A
XM_017005263.2:c.937+3688C>A	XP_016860752.1:n.937+3688C>A
XR_001739039.2:n.2882C>A
XR_001739040.1:n.3047C>A
XR_001739041.2:n.2843C>A
XR_001739042.2:n.2819C>A
XR_001739043.1:n.2795C>A
XR_001739044.2:n.2810C>A
XR_001739045.2:n.2780C>A
XR_001739046.1:n.3127C>A
XR_001739047.2:n.2696C>A
XR_001739048.1:n.2885C>A
XR_001739049.2:n.2630C>A
XR_001739050.2:n.2591C>A
XR_001739051.2:n.2558C>A
XR_001739052.2:n.2531C>A
XR_001739053.1:n.2520C>A
XR_001739054.1:n.2442C>A
XR_001739055.2:n.2459C>A
XR_001739056.2:n.2444C>A
XR_001739057.1:n.2460C>A
XR_001739058.1:n.2639C>A
XR_001739059.2:n.2372C>A
XR_001739060.1:n.2346C>A
XR_001739061.1:n.2388C>A
XR_001739062.1:n.2565C>A
XR_001739063.1:n.2272C>A
XR_001739064.1:n.2533C>A
XR_001739065.1:n.2477C>A
XR_001739066.1:n.2274C>A
XR_001739067.1:n.2181C>A
XR_001739068.1:n.2202C>A
XR_001739069.1:n.2379C>A
XR_001739070.1:n.2243C>A
XR_001739071.1:n.2101C>A
XR_001739072.1:n.2347C>A
XR_001739073.2:n.1591+3688C>A
XR_002959364.1:n.2273C>A
NM_001137550.2:c.1459+3688C>A MANE Select	NP_001131022.1:n.1459+3688C>A
NM_001137552.2:c.2180C>A	NP_001131024.1:p.Thr727Asn
NM_001137553.2:c.2012C>A	NP_001131025.1:p.Thr671Asn
NM_004735.4:c.2108C>A	NP_004726.2:p.Thr703Asn
NM_001137551.2:c.721+3688C>A	NP_001131023.1:n.721+3688C>A