Canonical Allele Identifier: CA351204681

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672562C>A (hg19) ; chr2:g.237763919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763919C>A , CM000664.2:g.237763919C>A	GRCh38
NC_000002.11:g.238672562C>A , CM000664.1:g.238672562C>A	GRCh37
NC_000002.10:g.238337301C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3714C>A
ENST00000698098.1:c.955+3714C>A	ENSP00000513562.1:n.955+3714C>A
ENST00000308482.14:c.1459+3714C>A MANE Select	ENSP00000310109.9:n.1459+3714C>A
ENST00000244815.9:c.2134C>A	ENSP00000244815.5:p.Gln712Lys
ENST00000289175.10:c.2038C>A	ENSP00000289175.6:p.Gln680Lys
ENST00000308482.13:c.1459+3714C>A	ENSP00000310109.9:n.1459+3714C>A
ENST00000392000.4:c.2206C>A	ENSP00000375857.4:p.Gln736Lys
ENST00000483443.1:n.235+3714C>A
NM_001137550.1:c.1459+3714C>A	NP_001131022.1:n.1459+3714C>A
NM_001137551.1:c.721+3714C>A	NP_001131023.1:n.721+3714C>A
NM_001137552.1:c.2206C>A	NP_001131024.1:p.Gln736Lys
NM_001137553.1:c.2038C>A	NP_001131025.1:p.Gln680Lys
NM_004735.3:c.2134C>A	NP_004726.2:p.Gln712Lys
XM_005246112.3:c.2839C>A	XP_005246169.1:p.Gln947Lys
XM_005246115.3:c.2794C>A	XP_005246172.1:p.Gln932Lys
XM_005246116.3:c.2776C>A	XP_005246173.1:p.Gln926Lys
XM_005246118.3:c.2731C>A	XP_005246175.1:p.Gln911Lys
XM_005246119.3:c.2728C>A	XP_005246176.1:p.Gln910Lys
XM_005246120.3:c.2692C>A	XP_005246177.1:p.Gln898Lys
XM_005246121.3:c.2677C>A	XP_005246178.1:p.Gln893Lys
XM_005246122.3:c.2665C>A	XP_005246179.1:p.Gln889Lys
XM_005246124.1:c.2647C>A	XP_005246181.1:p.Gln883Lys
XM_005246125.3:c.2626C>A	XP_005246182.1:p.Gln876Lys
XM_005246126.3:c.2587C>A	XP_005246183.1:p.Gln863Lys
XM_005246128.1:c.2554C>A	XP_005246185.1:p.Gln852Lys
XM_005246129.3:c.2515C>A	XP_005246186.1:p.Gln839Lys
XM_005246130.3:c.2488C>A	XP_005246187.1:p.Gln830Lys
XM_005246131.3:c.2401C>A	XP_005246188.1:p.Gln801Lys
XM_005246132.3:c.2326C>A	XP_005246189.1:p.Gln776Lys
XM_005246133.1:c.2296C>A	XP_005246190.1:p.Gln766Lys
XM_005246134.1:c.2254C>A	XP_005246191.1:p.Gln752Lys
XM_005246135.1:c.2224C>A	XP_005246192.1:p.Gln742Lys
XM_005246136.1:c.2068C>A	XP_005246193.1:p.Gln690Lys
XM_005246141.3:c.823+3714C>A	XP_005246198.1:n.823+3714C>A
XM_005246142.1:c.751+3714C>A	XP_005246199.1:n.751+3714C>A
XM_006712842.2:c.2737C>A	XP_006712905.1:p.Gln913Lys
XM_006712843.2:c.2632C>A	XP_006712906.1:p.Gln878Lys
XM_006712844.1:c.2566C>A	XP_006712907.1:p.Gln856Lys
XM_006712845.2:c.2548C>A	XP_006712908.1:p.Gln850Lys
XM_006712846.1:c.2452C>A	XP_006712909.1:p.Gln818Lys
XM_006712847.1:c.2392C>A	XP_006712910.1:p.Gln798Lys
XM_006712848.1:c.2320C>A	XP_006712911.1:p.Gln774Lys
XM_011512152.1:c.2872C>A	XP_011510454.1:p.Gln958Lys
XM_011512153.1:c.2854C>A	XP_011510455.1:p.Gln952Lys
XM_011512154.1:c.2842C>A	XP_011510456.1:p.Gln948Lys
XM_011512155.1:c.2833C>A	XP_011510457.1:p.Gln945Lys
XM_011512156.1:c.2800C>A	XP_011510458.1:p.Gln934Lys
XM_011512157.1:c.2686C>A	XP_011510459.1:p.Gln896Lys
XM_011512158.1:c.2614C>A	XP_011510460.1:p.Gln872Lys
XM_011512159.1:c.2422C>A	XP_011510461.1:p.Gln808Lys
XM_011512160.1:c.1555+3714C>A	XP_011510462.1:n.1555+3714C>A
XM_011512161.1:c.1555+3714C>A	XP_011510463.1:n.1555+3714C>A
XM_011512162.1:c.1369+3714C>A	XP_011510464.1:n.1369+3714C>A
XM_011512163.1:c.1297+3714C>A	XP_011510465.1:n.1297+3714C>A
XM_011512164.1:c.751+3714C>A	XP_011510466.1:n.751+3714C>A
XM_011512165.1:c.721+3714C>A	XP_011510467.1:n.721+3714C>A
XM_011512166.1:c.1516+3714C>A	XP_011510468.1:n.1516+3714C>A
XR_923063.1:n.1605+3714C>A
XM_005246141.4:c.823+3714C>A	XP_005246198.1:n.823+3714C>A
XM_005246142.2:c.751+3714C>A	XP_005246199.1:n.751+3714C>A
XM_017005253.2:c.1522+3714C>A	XP_016860742.1:n.1522+3714C>A
XM_017005254.2:c.1522+3714C>A	XP_016860743.1:n.1522+3714C>A
XM_017005255.2:c.1450+3714C>A	XP_016860744.1:n.1450+3714C>A
XM_017005256.2:c.1336+3714C>A	XP_016860745.1:n.1336+3714C>A
XM_017005257.2:c.1387+3714C>A	XP_016860746.1:n.1387+3714C>A
XM_017005258.2:c.1336+3714C>A	XP_016860747.1:n.1336+3714C>A
XM_017005260.2:c.1162+3714C>A	XP_016860749.1:n.1162+3714C>A
XM_017005261.2:c.1099+3714C>A	XP_016860750.1:n.1099+3714C>A
XM_017005262.2:c.1099+3714C>A	XP_016860751.1:n.1099+3714C>A
XM_017005263.2:c.937+3714C>A	XP_016860752.1:n.937+3714C>A
XR_001739039.2:n.2908C>A
XR_001739040.1:n.3073C>A
XR_001739041.2:n.2869C>A
XR_001739042.2:n.2845C>A
XR_001739043.1:n.2821C>A
XR_001739044.2:n.2836C>A
XR_001739045.2:n.2806C>A
XR_001739046.1:n.3153C>A
XR_001739047.2:n.2722C>A
XR_001739048.1:n.2911C>A
XR_001739049.2:n.2656C>A
XR_001739050.2:n.2617C>A
XR_001739051.2:n.2584C>A
XR_001739052.2:n.2557C>A
XR_001739053.1:n.2546C>A
XR_001739054.1:n.2468C>A
XR_001739055.2:n.2485C>A
XR_001739056.2:n.2470C>A
XR_001739057.1:n.2486C>A
XR_001739058.1:n.2665C>A
XR_001739059.2:n.2398C>A
XR_001739060.1:n.2372C>A
XR_001739061.1:n.2414C>A
XR_001739062.1:n.2591C>A
XR_001739063.1:n.2298C>A
XR_001739064.1:n.2559C>A
XR_001739065.1:n.2503C>A
XR_001739066.1:n.2300C>A
XR_001739067.1:n.2207C>A
XR_001739068.1:n.2228C>A
XR_001739069.1:n.2405C>A
XR_001739070.1:n.2269C>A
XR_001739071.1:n.2127C>A
XR_001739072.1:n.2373C>A
XR_001739073.2:n.1591+3714C>A
XR_002959364.1:n.2299C>A
NM_001137550.2:c.1459+3714C>A MANE Select	NP_001131022.1:n.1459+3714C>A
NM_001137552.2:c.2206C>A	NP_001131024.1:p.Gln736Lys
NM_001137553.2:c.2038C>A	NP_001131025.1:p.Gln680Lys
NM_004735.4:c.2134C>A	NP_004726.2:p.Gln712Lys
NM_001137551.2:c.721+3714C>A	NP_001131023.1:n.721+3714C>A