Canonical Allele Identifier: CA351204618

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672545A>T (hg19) ; chr2:g.237763902A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763902A>T , CM000664.2:g.237763902A>T	GRCh38
NC_000002.11:g.238672545A>T , CM000664.1:g.238672545A>T	GRCh37
NC_000002.10:g.238337284A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3697A>T
ENST00000698098.1:c.955+3697A>T	ENSP00000513562.1:n.955+3697A>T
ENST00000308482.14:c.1459+3697A>T MANE Select	ENSP00000310109.9:n.1459+3697A>T
ENST00000244815.9:c.2117A>T	ENSP00000244815.5:p.Glu706Val
ENST00000289175.10:c.2021A>T	ENSP00000289175.6:p.Glu674Val
ENST00000308482.13:c.1459+3697A>T	ENSP00000310109.9:n.1459+3697A>T
ENST00000392000.4:c.2189A>T	ENSP00000375857.4:p.Glu730Val
ENST00000483443.1:n.235+3697A>T
NM_001137550.1:c.1459+3697A>T	NP_001131022.1:n.1459+3697A>T
NM_001137551.1:c.721+3697A>T	NP_001131023.1:n.721+3697A>T
NM_001137552.1:c.2189A>T	NP_001131024.1:p.Glu730Val
NM_001137553.1:c.2021A>T	NP_001131025.1:p.Glu674Val
NM_004735.3:c.2117A>T	NP_004726.2:p.Glu706Val
XM_005246112.3:c.2822A>T	XP_005246169.1:p.Glu941Val
XM_005246115.3:c.2777A>T	XP_005246172.1:p.Glu926Val
XM_005246116.3:c.2759A>T	XP_005246173.1:p.Glu920Val
XM_005246118.3:c.2714A>T	XP_005246175.1:p.Glu905Val
XM_005246119.3:c.2711A>T	XP_005246176.1:p.Glu904Val
XM_005246120.3:c.2675A>T	XP_005246177.1:p.Glu892Val
XM_005246121.3:c.2660A>T	XP_005246178.1:p.Glu887Val
XM_005246122.3:c.2648A>T	XP_005246179.1:p.Glu883Val
XM_005246124.1:c.2630A>T	XP_005246181.1:p.Glu877Val
XM_005246125.3:c.2609A>T	XP_005246182.1:p.Glu870Val
XM_005246126.3:c.2570A>T	XP_005246183.1:p.Glu857Val
XM_005246128.1:c.2537A>T	XP_005246185.1:p.Glu846Val
XM_005246129.3:c.2498A>T	XP_005246186.1:p.Glu833Val
XM_005246130.3:c.2471A>T	XP_005246187.1:p.Glu824Val
XM_005246131.3:c.2384A>T	XP_005246188.1:p.Glu795Val
XM_005246132.3:c.2309A>T	XP_005246189.1:p.Glu770Val
XM_005246133.1:c.2279A>T	XP_005246190.1:p.Glu760Val
XM_005246134.1:c.2237A>T	XP_005246191.1:p.Glu746Val
XM_005246135.1:c.2207A>T	XP_005246192.1:p.Glu736Val
XM_005246136.1:c.2051A>T	XP_005246193.1:p.Glu684Val
XM_005246141.3:c.823+3697A>T	XP_005246198.1:n.823+3697A>T
XM_005246142.1:c.751+3697A>T	XP_005246199.1:n.751+3697A>T
XM_006712842.2:c.2720A>T	XP_006712905.1:p.Glu907Val
XM_006712843.2:c.2615A>T	XP_006712906.1:p.Glu872Val
XM_006712844.1:c.2549A>T	XP_006712907.1:p.Glu850Val
XM_006712845.2:c.2531A>T	XP_006712908.1:p.Glu844Val
XM_006712846.1:c.2435A>T	XP_006712909.1:p.Glu812Val
XM_006712847.1:c.2375A>T	XP_006712910.1:p.Glu792Val
XM_006712848.1:c.2303A>T	XP_006712911.1:p.Glu768Val
XM_011512152.1:c.2855A>T	XP_011510454.1:p.Glu952Val
XM_011512153.1:c.2837A>T	XP_011510455.1:p.Glu946Val
XM_011512154.1:c.2825A>T	XP_011510456.1:p.Glu942Val
XM_011512155.1:c.2816A>T	XP_011510457.1:p.Glu939Val
XM_011512156.1:c.2783A>T	XP_011510458.1:p.Glu928Val
XM_011512157.1:c.2669A>T	XP_011510459.1:p.Glu890Val
XM_011512158.1:c.2597A>T	XP_011510460.1:p.Glu866Val
XM_011512159.1:c.2405A>T	XP_011510461.1:p.Glu802Val
XM_011512160.1:c.1555+3697A>T	XP_011510462.1:n.1555+3697A>T
XM_011512161.1:c.1555+3697A>T	XP_011510463.1:n.1555+3697A>T
XM_011512162.1:c.1369+3697A>T	XP_011510464.1:n.1369+3697A>T
XM_011512163.1:c.1297+3697A>T	XP_011510465.1:n.1297+3697A>T
XM_011512164.1:c.751+3697A>T	XP_011510466.1:n.751+3697A>T
XM_011512165.1:c.721+3697A>T	XP_011510467.1:n.721+3697A>T
XM_011512166.1:c.1516+3697A>T	XP_011510468.1:n.1516+3697A>T
XR_923063.1:n.1605+3697A>T
XM_005246141.4:c.823+3697A>T	XP_005246198.1:n.823+3697A>T
XM_005246142.2:c.751+3697A>T	XP_005246199.1:n.751+3697A>T
XM_017005253.2:c.1522+3697A>T	XP_016860742.1:n.1522+3697A>T
XM_017005254.2:c.1522+3697A>T	XP_016860743.1:n.1522+3697A>T
XM_017005255.2:c.1450+3697A>T	XP_016860744.1:n.1450+3697A>T
XM_017005256.2:c.1336+3697A>T	XP_016860745.1:n.1336+3697A>T
XM_017005257.2:c.1387+3697A>T	XP_016860746.1:n.1387+3697A>T
XM_017005258.2:c.1336+3697A>T	XP_016860747.1:n.1336+3697A>T
XM_017005260.2:c.1162+3697A>T	XP_016860749.1:n.1162+3697A>T
XM_017005261.2:c.1099+3697A>T	XP_016860750.1:n.1099+3697A>T
XM_017005262.2:c.1099+3697A>T	XP_016860751.1:n.1099+3697A>T
XM_017005263.2:c.937+3697A>T	XP_016860752.1:n.937+3697A>T
XR_001739039.2:n.2891A>T
XR_001739040.1:n.3056A>T
XR_001739041.2:n.2852A>T
XR_001739042.2:n.2828A>T
XR_001739043.1:n.2804A>T
XR_001739044.2:n.2819A>T
XR_001739045.2:n.2789A>T
XR_001739046.1:n.3136A>T
XR_001739047.2:n.2705A>T
XR_001739048.1:n.2894A>T
XR_001739049.2:n.2639A>T
XR_001739050.2:n.2600A>T
XR_001739051.2:n.2567A>T
XR_001739052.2:n.2540A>T
XR_001739053.1:n.2529A>T
XR_001739054.1:n.2451A>T
XR_001739055.2:n.2468A>T
XR_001739056.2:n.2453A>T
XR_001739057.1:n.2469A>T
XR_001739058.1:n.2648A>T
XR_001739059.2:n.2381A>T
XR_001739060.1:n.2355A>T
XR_001739061.1:n.2397A>T
XR_001739062.1:n.2574A>T
XR_001739063.1:n.2281A>T
XR_001739064.1:n.2542A>T
XR_001739065.1:n.2486A>T
XR_001739066.1:n.2283A>T
XR_001739067.1:n.2190A>T
XR_001739068.1:n.2211A>T
XR_001739069.1:n.2388A>T
XR_001739070.1:n.2252A>T
XR_001739071.1:n.2110A>T
XR_001739072.1:n.2356A>T
XR_001739073.2:n.1591+3697A>T
XR_002959364.1:n.2282A>T
NM_001137550.2:c.1459+3697A>T MANE Select	NP_001131022.1:n.1459+3697A>T
NM_001137552.2:c.2189A>T	NP_001131024.1:p.Glu730Val
NM_001137553.2:c.2021A>T	NP_001131025.1:p.Glu674Val
NM_004735.4:c.2117A>T	NP_004726.2:p.Glu706Val
NM_001137551.2:c.721+3697A>T	NP_001131023.1:n.721+3697A>T