Canonical Allele Identifier: CA351204292

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672499C>G (hg19) ; chr2:g.237763856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763856C>G , CM000664.2:g.237763856C>G	GRCh38
NC_000002.11:g.238672499C>G , CM000664.1:g.238672499C>G	GRCh37
NC_000002.10:g.238337238C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3651C>G
ENST00000698098.1:c.955+3651C>G	ENSP00000513562.1:n.955+3651C>G
ENST00000308482.14:c.1459+3651C>G MANE Select	ENSP00000310109.9:n.1459+3651C>G
ENST00000244815.9:c.2071C>G	ENSP00000244815.5:p.Pro691Ala
ENST00000289175.10:c.1975C>G	ENSP00000289175.6:p.Pro659Ala
ENST00000308482.13:c.1459+3651C>G	ENSP00000310109.9:n.1459+3651C>G
ENST00000392000.4:c.2143C>G	ENSP00000375857.4:p.Pro715Ala
ENST00000483443.1:n.235+3651C>G
NM_001137550.1:c.1459+3651C>G	NP_001131022.1:n.1459+3651C>G
NM_001137551.1:c.721+3651C>G	NP_001131023.1:n.721+3651C>G
NM_001137552.1:c.2143C>G	NP_001131024.1:p.Pro715Ala
NM_001137553.1:c.1975C>G	NP_001131025.1:p.Pro659Ala
NM_004735.3:c.2071C>G	NP_004726.2:p.Pro691Ala
XM_005246112.3:c.2776C>G	XP_005246169.1:p.Pro926Ala
XM_005246115.3:c.2731C>G	XP_005246172.1:p.Pro911Ala
XM_005246116.3:c.2713C>G	XP_005246173.1:p.Pro905Ala
XM_005246118.3:c.2668C>G	XP_005246175.1:p.Pro890Ala
XM_005246119.3:c.2665C>G	XP_005246176.1:p.Pro889Ala
XM_005246120.3:c.2629C>G	XP_005246177.1:p.Pro877Ala
XM_005246121.3:c.2614C>G	XP_005246178.1:p.Pro872Ala
XM_005246122.3:c.2602C>G	XP_005246179.1:p.Pro868Ala
XM_005246124.1:c.2584C>G	XP_005246181.1:p.Pro862Ala
XM_005246125.3:c.2563C>G	XP_005246182.1:p.Pro855Ala
XM_005246126.3:c.2524C>G	XP_005246183.1:p.Pro842Ala
XM_005246128.1:c.2491C>G	XP_005246185.1:p.Pro831Ala
XM_005246129.3:c.2452C>G	XP_005246186.1:p.Pro818Ala
XM_005246130.3:c.2425C>G	XP_005246187.1:p.Pro809Ala
XM_005246131.3:c.2338C>G	XP_005246188.1:p.Pro780Ala
XM_005246132.3:c.2263C>G	XP_005246189.1:p.Pro755Ala
XM_005246133.1:c.2233C>G	XP_005246190.1:p.Pro745Ala
XM_005246134.1:c.2191C>G	XP_005246191.1:p.Pro731Ala
XM_005246135.1:c.2161C>G	XP_005246192.1:p.Pro721Ala
XM_005246136.1:c.2005C>G	XP_005246193.1:p.Pro669Ala
XM_005246141.3:c.823+3651C>G	XP_005246198.1:n.823+3651C>G
XM_005246142.1:c.751+3651C>G	XP_005246199.1:n.751+3651C>G
XM_006712842.2:c.2674C>G	XP_006712905.1:p.Pro892Ala
XM_006712843.2:c.2569C>G	XP_006712906.1:p.Pro857Ala
XM_006712844.1:c.2503C>G	XP_006712907.1:p.Pro835Ala
XM_006712845.2:c.2485C>G	XP_006712908.1:p.Pro829Ala
XM_006712846.1:c.2389C>G	XP_006712909.1:p.Pro797Ala
XM_006712847.1:c.2329C>G	XP_006712910.1:p.Pro777Ala
XM_006712848.1:c.2257C>G	XP_006712911.1:p.Pro753Ala
XM_011512152.1:c.2809C>G	XP_011510454.1:p.Pro937Ala
XM_011512153.1:c.2791C>G	XP_011510455.1:p.Pro931Ala
XM_011512154.1:c.2779C>G	XP_011510456.1:p.Pro927Ala
XM_011512155.1:c.2770C>G	XP_011510457.1:p.Pro924Ala
XM_011512156.1:c.2737C>G	XP_011510458.1:p.Pro913Ala
XM_011512157.1:c.2623C>G	XP_011510459.1:p.Pro875Ala
XM_011512158.1:c.2551C>G	XP_011510460.1:p.Pro851Ala
XM_011512159.1:c.2359C>G	XP_011510461.1:p.Pro787Ala
XM_011512160.1:c.1555+3651C>G	XP_011510462.1:n.1555+3651C>G
XM_011512161.1:c.1555+3651C>G	XP_011510463.1:n.1555+3651C>G
XM_011512162.1:c.1369+3651C>G	XP_011510464.1:n.1369+3651C>G
XM_011512163.1:c.1297+3651C>G	XP_011510465.1:n.1297+3651C>G
XM_011512164.1:c.751+3651C>G	XP_011510466.1:n.751+3651C>G
XM_011512165.1:c.721+3651C>G	XP_011510467.1:n.721+3651C>G
XM_011512166.1:c.1516+3651C>G	XP_011510468.1:n.1516+3651C>G
XR_923063.1:n.1605+3651C>G
XM_005246141.4:c.823+3651C>G	XP_005246198.1:n.823+3651C>G
XM_005246142.2:c.751+3651C>G	XP_005246199.1:n.751+3651C>G
XM_017005253.2:c.1522+3651C>G	XP_016860742.1:n.1522+3651C>G
XM_017005254.2:c.1522+3651C>G	XP_016860743.1:n.1522+3651C>G
XM_017005255.2:c.1450+3651C>G	XP_016860744.1:n.1450+3651C>G
XM_017005256.2:c.1336+3651C>G	XP_016860745.1:n.1336+3651C>G
XM_017005257.2:c.1387+3651C>G	XP_016860746.1:n.1387+3651C>G
XM_017005258.2:c.1336+3651C>G	XP_016860747.1:n.1336+3651C>G
XM_017005260.2:c.1162+3651C>G	XP_016860749.1:n.1162+3651C>G
XM_017005261.2:c.1099+3651C>G	XP_016860750.1:n.1099+3651C>G
XM_017005262.2:c.1099+3651C>G	XP_016860751.1:n.1099+3651C>G
XM_017005263.2:c.937+3651C>G	XP_016860752.1:n.937+3651C>G
XR_001739039.2:n.2845C>G
XR_001739040.1:n.3010C>G
XR_001739041.2:n.2806C>G
XR_001739042.2:n.2782C>G
XR_001739043.1:n.2758C>G
XR_001739044.2:n.2773C>G
XR_001739045.2:n.2743C>G
XR_001739046.1:n.3090C>G
XR_001739047.2:n.2659C>G
XR_001739048.1:n.2848C>G
XR_001739049.2:n.2593C>G
XR_001739050.2:n.2554C>G
XR_001739051.2:n.2521C>G
XR_001739052.2:n.2494C>G
XR_001739053.1:n.2483C>G
XR_001739054.1:n.2405C>G
XR_001739055.2:n.2422C>G
XR_001739056.2:n.2407C>G
XR_001739057.1:n.2423C>G
XR_001739058.1:n.2602C>G
XR_001739059.2:n.2335C>G
XR_001739060.1:n.2309C>G
XR_001739061.1:n.2351C>G
XR_001739062.1:n.2528C>G
XR_001739063.1:n.2235C>G
XR_001739064.1:n.2496C>G
XR_001739065.1:n.2440C>G
XR_001739066.1:n.2237C>G
XR_001739067.1:n.2144C>G
XR_001739068.1:n.2165C>G
XR_001739069.1:n.2342C>G
XR_001739070.1:n.2206C>G
XR_001739071.1:n.2064C>G
XR_001739072.1:n.2310C>G
XR_001739073.2:n.1591+3651C>G
XR_002959364.1:n.2236C>G
NM_001137550.2:c.1459+3651C>G MANE Select	NP_001131022.1:n.1459+3651C>G
NM_001137552.2:c.2143C>G	NP_001131024.1:p.Pro715Ala
NM_001137553.2:c.1975C>G	NP_001131025.1:p.Pro659Ala
NM_004735.4:c.2071C>G	NP_004726.2:p.Pro691Ala
NM_001137551.2:c.721+3651C>G	NP_001131023.1:n.721+3651C>G