Canonical Allele Identifier: CA351204200

Gene: LRRFIP1

Linked Data

• gnomAD v4: 2-237763845-C-T
• MyVariant Identifiers: chr2:g.238672488C>T (hg19) ; chr2:g.237763845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763845C>T , CM000664.2:g.237763845C>T	GRCh38
NC_000002.11:g.238672488C>T , CM000664.1:g.238672488C>T	GRCh37
NC_000002.10:g.238337227C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3640C>T
ENST00000698098.1:c.955+3640C>T	ENSP00000513562.1:n.955+3640C>T
ENST00000308482.14:c.1459+3640C>T MANE Select	ENSP00000310109.9:n.1459+3640C>T
ENST00000244815.9:c.2060C>T	ENSP00000244815.5:p.Thr687Ile
ENST00000289175.10:c.1964C>T	ENSP00000289175.6:p.Thr655Ile
ENST00000308482.13:c.1459+3640C>T	ENSP00000310109.9:n.1459+3640C>T
ENST00000392000.4:c.2132C>T	ENSP00000375857.4:p.Thr711Ile
ENST00000483443.1:n.235+3640C>T
NM_001137550.1:c.1459+3640C>T	NP_001131022.1:n.1459+3640C>T
NM_001137551.1:c.721+3640C>T	NP_001131023.1:n.721+3640C>T
NM_001137552.1:c.2132C>T	NP_001131024.1:p.Thr711Ile
NM_001137553.1:c.1964C>T	NP_001131025.1:p.Thr655Ile
NM_004735.3:c.2060C>T	NP_004726.2:p.Thr687Ile
XM_005246112.3:c.2765C>T	XP_005246169.1:p.Thr922Ile
XM_005246115.3:c.2720C>T	XP_005246172.1:p.Thr907Ile
XM_005246116.3:c.2702C>T	XP_005246173.1:p.Thr901Ile
XM_005246118.3:c.2657C>T	XP_005246175.1:p.Thr886Ile
XM_005246119.3:c.2654C>T	XP_005246176.1:p.Thr885Ile
XM_005246120.3:c.2618C>T	XP_005246177.1:p.Thr873Ile
XM_005246121.3:c.2603C>T	XP_005246178.1:p.Thr868Ile
XM_005246122.3:c.2591C>T	XP_005246179.1:p.Thr864Ile
XM_005246124.1:c.2573C>T	XP_005246181.1:p.Thr858Ile
XM_005246125.3:c.2552C>T	XP_005246182.1:p.Thr851Ile
XM_005246126.3:c.2513C>T	XP_005246183.1:p.Thr838Ile
XM_005246128.1:c.2480C>T	XP_005246185.1:p.Thr827Ile
XM_005246129.3:c.2441C>T	XP_005246186.1:p.Thr814Ile
XM_005246130.3:c.2414C>T	XP_005246187.1:p.Thr805Ile
XM_005246131.3:c.2327C>T	XP_005246188.1:p.Thr776Ile
XM_005246132.3:c.2252C>T	XP_005246189.1:p.Thr751Ile
XM_005246133.1:c.2222C>T	XP_005246190.1:p.Thr741Ile
XM_005246134.1:c.2180C>T	XP_005246191.1:p.Thr727Ile
XM_005246135.1:c.2150C>T	XP_005246192.1:p.Thr717Ile
XM_005246136.1:c.1994C>T	XP_005246193.1:p.Thr665Ile
XM_005246141.3:c.823+3640C>T	XP_005246198.1:n.823+3640C>T
XM_005246142.1:c.751+3640C>T	XP_005246199.1:n.751+3640C>T
XM_006712842.2:c.2663C>T	XP_006712905.1:p.Thr888Ile
XM_006712843.2:c.2558C>T	XP_006712906.1:p.Thr853Ile
XM_006712844.1:c.2492C>T	XP_006712907.1:p.Thr831Ile
XM_006712845.2:c.2474C>T	XP_006712908.1:p.Thr825Ile
XM_006712846.1:c.2378C>T	XP_006712909.1:p.Thr793Ile
XM_006712847.1:c.2318C>T	XP_006712910.1:p.Thr773Ile
XM_006712848.1:c.2246C>T	XP_006712911.1:p.Thr749Ile
XM_011512152.1:c.2798C>T	XP_011510454.1:p.Thr933Ile
XM_011512153.1:c.2780C>T	XP_011510455.1:p.Thr927Ile
XM_011512154.1:c.2768C>T	XP_011510456.1:p.Thr923Ile
XM_011512155.1:c.2759C>T	XP_011510457.1:p.Thr920Ile
XM_011512156.1:c.2726C>T	XP_011510458.1:p.Thr909Ile
XM_011512157.1:c.2612C>T	XP_011510459.1:p.Thr871Ile
XM_011512158.1:c.2540C>T	XP_011510460.1:p.Thr847Ile
XM_011512159.1:c.2348C>T	XP_011510461.1:p.Thr783Ile
XM_011512160.1:c.1555+3640C>T	XP_011510462.1:n.1555+3640C>T
XM_011512161.1:c.1555+3640C>T	XP_011510463.1:n.1555+3640C>T
XM_011512162.1:c.1369+3640C>T	XP_011510464.1:n.1369+3640C>T
XM_011512163.1:c.1297+3640C>T	XP_011510465.1:n.1297+3640C>T
XM_011512164.1:c.751+3640C>T	XP_011510466.1:n.751+3640C>T
XM_011512165.1:c.721+3640C>T	XP_011510467.1:n.721+3640C>T
XM_011512166.1:c.1516+3640C>T	XP_011510468.1:n.1516+3640C>T
XR_923063.1:n.1605+3640C>T
XM_005246141.4:c.823+3640C>T	XP_005246198.1:n.823+3640C>T
XM_005246142.2:c.751+3640C>T	XP_005246199.1:n.751+3640C>T
XM_017005253.2:c.1522+3640C>T	XP_016860742.1:n.1522+3640C>T
XM_017005254.2:c.1522+3640C>T	XP_016860743.1:n.1522+3640C>T
XM_017005255.2:c.1450+3640C>T	XP_016860744.1:n.1450+3640C>T
XM_017005256.2:c.1336+3640C>T	XP_016860745.1:n.1336+3640C>T
XM_017005257.2:c.1387+3640C>T	XP_016860746.1:n.1387+3640C>T
XM_017005258.2:c.1336+3640C>T	XP_016860747.1:n.1336+3640C>T
XM_017005260.2:c.1162+3640C>T	XP_016860749.1:n.1162+3640C>T
XM_017005261.2:c.1099+3640C>T	XP_016860750.1:n.1099+3640C>T
XM_017005262.2:c.1099+3640C>T	XP_016860751.1:n.1099+3640C>T
XM_017005263.2:c.937+3640C>T	XP_016860752.1:n.937+3640C>T
XR_001739039.2:n.2834C>T
XR_001739040.1:n.2999C>T
XR_001739041.2:n.2795C>T
XR_001739042.2:n.2771C>T
XR_001739043.1:n.2747C>T
XR_001739044.2:n.2762C>T
XR_001739045.2:n.2732C>T
XR_001739046.1:n.3079C>T
XR_001739047.2:n.2648C>T
XR_001739048.1:n.2837C>T
XR_001739049.2:n.2582C>T
XR_001739050.2:n.2543C>T
XR_001739051.2:n.2510C>T
XR_001739052.2:n.2483C>T
XR_001739053.1:n.2472C>T
XR_001739054.1:n.2394C>T
XR_001739055.2:n.2411C>T
XR_001739056.2:n.2396C>T
XR_001739057.1:n.2412C>T
XR_001739058.1:n.2591C>T
XR_001739059.2:n.2324C>T
XR_001739060.1:n.2298C>T
XR_001739061.1:n.2340C>T
XR_001739062.1:n.2517C>T
XR_001739063.1:n.2224C>T
XR_001739064.1:n.2485C>T
XR_001739065.1:n.2429C>T
XR_001739066.1:n.2226C>T
XR_001739067.1:n.2133C>T
XR_001739068.1:n.2154C>T
XR_001739069.1:n.2331C>T
XR_001739070.1:n.2195C>T
XR_001739071.1:n.2053C>T
XR_001739072.1:n.2299C>T
XR_001739073.2:n.1591+3640C>T
XR_002959364.1:n.2225C>T
NM_001137550.2:c.1459+3640C>T MANE Select	NP_001131022.1:n.1459+3640C>T
NM_001137552.2:c.2132C>T	NP_001131024.1:p.Thr711Ile
NM_001137553.2:c.1964C>T	NP_001131025.1:p.Thr655Ile
NM_004735.4:c.2060C>T	NP_004726.2:p.Thr687Ile
NM_001137551.2:c.721+3640C>T	NP_001131023.1:n.721+3640C>T