Canonical Allele Identifier: CA351204639

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672550G>T (hg19) ; chr2:g.237763907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763907G>T , CM000664.2:g.237763907G>T	GRCh38
NC_000002.11:g.238672550G>T , CM000664.1:g.238672550G>T	GRCh37
NC_000002.10:g.238337289G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3702G>T
ENST00000698098.1:c.955+3702G>T	ENSP00000513562.1:n.955+3702G>T
ENST00000308482.14:c.1459+3702G>T MANE Select	ENSP00000310109.9:n.1459+3702G>T
ENST00000244815.9:c.2122G>T	ENSP00000244815.5:p.Glu708Ter
ENST00000289175.10:c.2026G>T	ENSP00000289175.6:p.Glu676Ter
ENST00000308482.13:c.1459+3702G>T	ENSP00000310109.9:n.1459+3702G>T
ENST00000392000.4:c.2194G>T	ENSP00000375857.4:p.Glu732Ter
ENST00000483443.1:n.235+3702G>T
NM_001137550.1:c.1459+3702G>T	NP_001131022.1:n.1459+3702G>T
NM_001137551.1:c.721+3702G>T	NP_001131023.1:n.721+3702G>T
NM_001137552.1:c.2194G>T	NP_001131024.1:p.Glu732Ter
NM_001137553.1:c.2026G>T	NP_001131025.1:p.Glu676Ter
NM_004735.3:c.2122G>T	NP_004726.2:p.Glu708Ter
XM_005246112.3:c.2827G>T	XP_005246169.1:p.Glu943Ter
XM_005246115.3:c.2782G>T	XP_005246172.1:p.Glu928Ter
XM_005246116.3:c.2764G>T	XP_005246173.1:p.Glu922Ter
XM_005246118.3:c.2719G>T	XP_005246175.1:p.Glu907Ter
XM_005246119.3:c.2716G>T	XP_005246176.1:p.Glu906Ter
XM_005246120.3:c.2680G>T	XP_005246177.1:p.Glu894Ter
XM_005246121.3:c.2665G>T	XP_005246178.1:p.Glu889Ter
XM_005246122.3:c.2653G>T	XP_005246179.1:p.Glu885Ter
XM_005246124.1:c.2635G>T	XP_005246181.1:p.Glu879Ter
XM_005246125.3:c.2614G>T	XP_005246182.1:p.Glu872Ter
XM_005246126.3:c.2575G>T	XP_005246183.1:p.Glu859Ter
XM_005246128.1:c.2542G>T	XP_005246185.1:p.Glu848Ter
XM_005246129.3:c.2503G>T	XP_005246186.1:p.Glu835Ter
XM_005246130.3:c.2476G>T	XP_005246187.1:p.Glu826Ter
XM_005246131.3:c.2389G>T	XP_005246188.1:p.Glu797Ter
XM_005246132.3:c.2314G>T	XP_005246189.1:p.Glu772Ter
XM_005246133.1:c.2284G>T	XP_005246190.1:p.Glu762Ter
XM_005246134.1:c.2242G>T	XP_005246191.1:p.Glu748Ter
XM_005246135.1:c.2212G>T	XP_005246192.1:p.Glu738Ter
XM_005246136.1:c.2056G>T	XP_005246193.1:p.Glu686Ter
XM_005246141.3:c.823+3702G>T	XP_005246198.1:n.823+3702G>T
XM_005246142.1:c.751+3702G>T	XP_005246199.1:n.751+3702G>T
XM_006712842.2:c.2725G>T	XP_006712905.1:p.Glu909Ter
XM_006712843.2:c.2620G>T	XP_006712906.1:p.Glu874Ter
XM_006712844.1:c.2554G>T	XP_006712907.1:p.Glu852Ter
XM_006712845.2:c.2536G>T	XP_006712908.1:p.Glu846Ter
XM_006712846.1:c.2440G>T	XP_006712909.1:p.Glu814Ter
XM_006712847.1:c.2380G>T	XP_006712910.1:p.Glu794Ter
XM_006712848.1:c.2308G>T	XP_006712911.1:p.Glu770Ter
XM_011512152.1:c.2860G>T	XP_011510454.1:p.Glu954Ter
XM_011512153.1:c.2842G>T	XP_011510455.1:p.Glu948Ter
XM_011512154.1:c.2830G>T	XP_011510456.1:p.Glu944Ter
XM_011512155.1:c.2821G>T	XP_011510457.1:p.Glu941Ter
XM_011512156.1:c.2788G>T	XP_011510458.1:p.Glu930Ter
XM_011512157.1:c.2674G>T	XP_011510459.1:p.Glu892Ter
XM_011512158.1:c.2602G>T	XP_011510460.1:p.Glu868Ter
XM_011512159.1:c.2410G>T	XP_011510461.1:p.Glu804Ter
XM_011512160.1:c.1555+3702G>T	XP_011510462.1:n.1555+3702G>T
XM_011512161.1:c.1555+3702G>T	XP_011510463.1:n.1555+3702G>T
XM_011512162.1:c.1369+3702G>T	XP_011510464.1:n.1369+3702G>T
XM_011512163.1:c.1297+3702G>T	XP_011510465.1:n.1297+3702G>T
XM_011512164.1:c.751+3702G>T	XP_011510466.1:n.751+3702G>T
XM_011512165.1:c.721+3702G>T	XP_011510467.1:n.721+3702G>T
XM_011512166.1:c.1516+3702G>T	XP_011510468.1:n.1516+3702G>T
XR_923063.1:n.1605+3702G>T
XM_005246141.4:c.823+3702G>T	XP_005246198.1:n.823+3702G>T
XM_005246142.2:c.751+3702G>T	XP_005246199.1:n.751+3702G>T
XM_017005253.2:c.1522+3702G>T	XP_016860742.1:n.1522+3702G>T
XM_017005254.2:c.1522+3702G>T	XP_016860743.1:n.1522+3702G>T
XM_017005255.2:c.1450+3702G>T	XP_016860744.1:n.1450+3702G>T
XM_017005256.2:c.1336+3702G>T	XP_016860745.1:n.1336+3702G>T
XM_017005257.2:c.1387+3702G>T	XP_016860746.1:n.1387+3702G>T
XM_017005258.2:c.1336+3702G>T	XP_016860747.1:n.1336+3702G>T
XM_017005260.2:c.1162+3702G>T	XP_016860749.1:n.1162+3702G>T
XM_017005261.2:c.1099+3702G>T	XP_016860750.1:n.1099+3702G>T
XM_017005262.2:c.1099+3702G>T	XP_016860751.1:n.1099+3702G>T
XM_017005263.2:c.937+3702G>T	XP_016860752.1:n.937+3702G>T
XR_001739039.2:n.2896G>T
XR_001739040.1:n.3061G>T
XR_001739041.2:n.2857G>T
XR_001739042.2:n.2833G>T
XR_001739043.1:n.2809G>T
XR_001739044.2:n.2824G>T
XR_001739045.2:n.2794G>T
XR_001739046.1:n.3141G>T
XR_001739047.2:n.2710G>T
XR_001739048.1:n.2899G>T
XR_001739049.2:n.2644G>T
XR_001739050.2:n.2605G>T
XR_001739051.2:n.2572G>T
XR_001739052.2:n.2545G>T
XR_001739053.1:n.2534G>T
XR_001739054.1:n.2456G>T
XR_001739055.2:n.2473G>T
XR_001739056.2:n.2458G>T
XR_001739057.1:n.2474G>T
XR_001739058.1:n.2653G>T
XR_001739059.2:n.2386G>T
XR_001739060.1:n.2360G>T
XR_001739061.1:n.2402G>T
XR_001739062.1:n.2579G>T
XR_001739063.1:n.2286G>T
XR_001739064.1:n.2547G>T
XR_001739065.1:n.2491G>T
XR_001739066.1:n.2288G>T
XR_001739067.1:n.2195G>T
XR_001739068.1:n.2216G>T
XR_001739069.1:n.2393G>T
XR_001739070.1:n.2257G>T
XR_001739071.1:n.2115G>T
XR_001739072.1:n.2361G>T
XR_001739073.2:n.1591+3702G>T
XR_002959364.1:n.2287G>T
NM_001137550.2:c.1459+3702G>T MANE Select	NP_001131022.1:n.1459+3702G>T
NM_001137552.2:c.2194G>T	NP_001131024.1:p.Glu732Ter
NM_001137553.2:c.2026G>T	NP_001131025.1:p.Glu676Ter
NM_004735.4:c.2122G>T	NP_004726.2:p.Glu708Ter
NM_001137551.2:c.721+3702G>T	NP_001131023.1:n.721+3702G>T