Canonical Allele Identifier: CA351204693

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672564G>T (hg19) ; chr2:g.237763921G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763921G>T , CM000664.2:g.237763921G>T	GRCh38
NC_000002.11:g.238672564G>T , CM000664.1:g.238672564G>T	GRCh37
NC_000002.10:g.238337303G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3716G>T
ENST00000698098.1:c.955+3716G>T	ENSP00000513562.1:n.955+3716G>T
ENST00000308482.14:c.1459+3716G>T MANE Select	ENSP00000310109.9:n.1459+3716G>T
ENST00000244815.9:c.2136G>T	ENSP00000244815.5:p.Gln712His
ENST00000289175.10:c.2040G>T	ENSP00000289175.6:p.Gln680His
ENST00000308482.13:c.1459+3716G>T	ENSP00000310109.9:n.1459+3716G>T
ENST00000392000.4:c.2208G>T	ENSP00000375857.4:p.Gln736His
ENST00000483443.1:n.235+3716G>T
NM_001137550.1:c.1459+3716G>T	NP_001131022.1:n.1459+3716G>T
NM_001137551.1:c.721+3716G>T	NP_001131023.1:n.721+3716G>T
NM_001137552.1:c.2208G>T	NP_001131024.1:p.Gln736His
NM_001137553.1:c.2040G>T	NP_001131025.1:p.Gln680His
NM_004735.3:c.2136G>T	NP_004726.2:p.Gln712His
XM_005246112.3:c.2841G>T	XP_005246169.1:p.Gln947His
XM_005246115.3:c.2796G>T	XP_005246172.1:p.Gln932His
XM_005246116.3:c.2778G>T	XP_005246173.1:p.Gln926His
XM_005246118.3:c.2733G>T	XP_005246175.1:p.Gln911His
XM_005246119.3:c.2730G>T	XP_005246176.1:p.Gln910His
XM_005246120.3:c.2694G>T	XP_005246177.1:p.Gln898His
XM_005246121.3:c.2679G>T	XP_005246178.1:p.Gln893His
XM_005246122.3:c.2667G>T	XP_005246179.1:p.Gln889His
XM_005246124.1:c.2649G>T	XP_005246181.1:p.Gln883His
XM_005246125.3:c.2628G>T	XP_005246182.1:p.Gln876His
XM_005246126.3:c.2589G>T	XP_005246183.1:p.Gln863His
XM_005246128.1:c.2556G>T	XP_005246185.1:p.Gln852His
XM_005246129.3:c.2517G>T	XP_005246186.1:p.Gln839His
XM_005246130.3:c.2490G>T	XP_005246187.1:p.Gln830His
XM_005246131.3:c.2403G>T	XP_005246188.1:p.Gln801His
XM_005246132.3:c.2328G>T	XP_005246189.1:p.Gln776His
XM_005246133.1:c.2298G>T	XP_005246190.1:p.Gln766His
XM_005246134.1:c.2256G>T	XP_005246191.1:p.Gln752His
XM_005246135.1:c.2226G>T	XP_005246192.1:p.Gln742His
XM_005246136.1:c.2070G>T	XP_005246193.1:p.Gln690His
XM_005246141.3:c.823+3716G>T	XP_005246198.1:n.823+3716G>T
XM_005246142.1:c.751+3716G>T	XP_005246199.1:n.751+3716G>T
XM_006712842.2:c.2739G>T	XP_006712905.1:p.Gln913His
XM_006712843.2:c.2634G>T	XP_006712906.1:p.Gln878His
XM_006712844.1:c.2568G>T	XP_006712907.1:p.Gln856His
XM_006712845.2:c.2550G>T	XP_006712908.1:p.Gln850His
XM_006712846.1:c.2454G>T	XP_006712909.1:p.Gln818His
XM_006712847.1:c.2394G>T	XP_006712910.1:p.Gln798His
XM_006712848.1:c.2322G>T	XP_006712911.1:p.Gln774His
XM_011512152.1:c.2874G>T	XP_011510454.1:p.Gln958His
XM_011512153.1:c.2856G>T	XP_011510455.1:p.Gln952His
XM_011512154.1:c.2844G>T	XP_011510456.1:p.Gln948His
XM_011512155.1:c.2835G>T	XP_011510457.1:p.Gln945His
XM_011512156.1:c.2802G>T	XP_011510458.1:p.Gln934His
XM_011512157.1:c.2688G>T	XP_011510459.1:p.Gln896His
XM_011512158.1:c.2616G>T	XP_011510460.1:p.Gln872His
XM_011512159.1:c.2424G>T	XP_011510461.1:p.Gln808His
XM_011512160.1:c.1555+3716G>T	XP_011510462.1:n.1555+3716G>T
XM_011512161.1:c.1555+3716G>T	XP_011510463.1:n.1555+3716G>T
XM_011512162.1:c.1369+3716G>T	XP_011510464.1:n.1369+3716G>T
XM_011512163.1:c.1297+3716G>T	XP_011510465.1:n.1297+3716G>T
XM_011512164.1:c.751+3716G>T	XP_011510466.1:n.751+3716G>T
XM_011512165.1:c.721+3716G>T	XP_011510467.1:n.721+3716G>T
XM_011512166.1:c.1516+3716G>T	XP_011510468.1:n.1516+3716G>T
XR_923063.1:n.1605+3716G>T
XM_005246141.4:c.823+3716G>T	XP_005246198.1:n.823+3716G>T
XM_005246142.2:c.751+3716G>T	XP_005246199.1:n.751+3716G>T
XM_017005253.2:c.1522+3716G>T	XP_016860742.1:n.1522+3716G>T
XM_017005254.2:c.1522+3716G>T	XP_016860743.1:n.1522+3716G>T
XM_017005255.2:c.1450+3716G>T	XP_016860744.1:n.1450+3716G>T
XM_017005256.2:c.1336+3716G>T	XP_016860745.1:n.1336+3716G>T
XM_017005257.2:c.1387+3716G>T	XP_016860746.1:n.1387+3716G>T
XM_017005258.2:c.1336+3716G>T	XP_016860747.1:n.1336+3716G>T
XM_017005260.2:c.1162+3716G>T	XP_016860749.1:n.1162+3716G>T
XM_017005261.2:c.1099+3716G>T	XP_016860750.1:n.1099+3716G>T
XM_017005262.2:c.1099+3716G>T	XP_016860751.1:n.1099+3716G>T
XM_017005263.2:c.937+3716G>T	XP_016860752.1:n.937+3716G>T
XR_001739039.2:n.2910G>T
XR_001739040.1:n.3075G>T
XR_001739041.2:n.2871G>T
XR_001739042.2:n.2847G>T
XR_001739043.1:n.2823G>T
XR_001739044.2:n.2838G>T
XR_001739045.2:n.2808G>T
XR_001739046.1:n.3155G>T
XR_001739047.2:n.2724G>T
XR_001739048.1:n.2913G>T
XR_001739049.2:n.2658G>T
XR_001739050.2:n.2619G>T
XR_001739051.2:n.2586G>T
XR_001739052.2:n.2559G>T
XR_001739053.1:n.2548G>T
XR_001739054.1:n.2470G>T
XR_001739055.2:n.2487G>T
XR_001739056.2:n.2472G>T
XR_001739057.1:n.2488G>T
XR_001739058.1:n.2667G>T
XR_001739059.2:n.2400G>T
XR_001739060.1:n.2374G>T
XR_001739061.1:n.2416G>T
XR_001739062.1:n.2593G>T
XR_001739063.1:n.2300G>T
XR_001739064.1:n.2561G>T
XR_001739065.1:n.2505G>T
XR_001739066.1:n.2302G>T
XR_001739067.1:n.2209G>T
XR_001739068.1:n.2230G>T
XR_001739069.1:n.2407G>T
XR_001739070.1:n.2271G>T
XR_001739071.1:n.2129G>T
XR_001739072.1:n.2375G>T
XR_001739073.2:n.1591+3716G>T
XR_002959364.1:n.2301G>T
NM_001137550.2:c.1459+3716G>T MANE Select	NP_001131022.1:n.1459+3716G>T
NM_001137552.2:c.2208G>T	NP_001131024.1:p.Gln736His
NM_001137553.2:c.2040G>T	NP_001131025.1:p.Gln680His
NM_004735.4:c.2136G>T	NP_004726.2:p.Gln712His
NM_001137551.2:c.721+3716G>T	NP_001131023.1:n.721+3716G>T