Canonical Allele Identifier: CA2192277

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs781464120
• ExAC: 2:238672457 G / C
• gnomAD v2: 2-238672457-G-C
• gnomAD v3: 2-237763814-G-C
• gnomAD v4: 2-237763814-G-C
• MyVariant Identifiers: chr2:g.238672457G>C (hg19) ; chr2:g.237763814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763814G>C , CM000664.2:g.237763814G>C	GRCh38
NC_000002.11:g.238672457G>C , CM000664.1:g.238672457G>C	GRCh37
NC_000002.10:g.238337196G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3609G>C
ENST00000698098.1:c.955+3609G>C	ENSP00000513562.1:n.955+3609G>C
ENST00000308482.14:c.1459+3609G>C MANE Select	ENSP00000310109.9:n.1459+3609G>C
ENST00000244815.9:c.2029G>C	ENSP00000244815.5:p.Ala677Pro
ENST00000289175.10:c.1933G>C	ENSP00000289175.6:p.Ala645Pro
ENST00000308482.13:c.1459+3609G>C	ENSP00000310109.9:n.1459+3609G>C
ENST00000392000.4:c.2101G>C	ENSP00000375857.4:p.Ala701Pro
ENST00000483443.1:n.235+3609G>C
NM_001137550.1:c.1459+3609G>C	NP_001131022.1:n.1459+3609G>C
NM_001137551.1:c.721+3609G>C	NP_001131023.1:n.721+3609G>C
NM_001137552.1:c.2101G>C	NP_001131024.1:p.Ala701Pro
NM_001137553.1:c.1933G>C	NP_001131025.1:p.Ala645Pro
NM_004735.3:c.2029G>C	NP_004726.2:p.Ala677Pro
XM_005246112.3:c.2734G>C	XP_005246169.1:p.Ala912Pro
XM_005246115.3:c.2689G>C	XP_005246172.1:p.Ala897Pro
XM_005246116.3:c.2671G>C	XP_005246173.1:p.Ala891Pro
XM_005246118.3:c.2626G>C	XP_005246175.1:p.Ala876Pro
XM_005246119.3:c.2623G>C	XP_005246176.1:p.Ala875Pro
XM_005246120.3:c.2587G>C	XP_005246177.1:p.Ala863Pro
XM_005246121.3:c.2572G>C	XP_005246178.1:p.Ala858Pro
XM_005246122.3:c.2560G>C	XP_005246179.1:p.Ala854Pro
XM_005246124.1:c.2542G>C	XP_005246181.1:p.Ala848Pro
XM_005246125.3:c.2521G>C	XP_005246182.1:p.Ala841Pro
XM_005246126.3:c.2482G>C	XP_005246183.1:p.Ala828Pro
XM_005246128.1:c.2449G>C	XP_005246185.1:p.Ala817Pro
XM_005246129.3:c.2410G>C	XP_005246186.1:p.Ala804Pro
XM_005246130.3:c.2383G>C	XP_005246187.1:p.Ala795Pro
XM_005246131.3:c.2296G>C	XP_005246188.1:p.Ala766Pro
XM_005246132.3:c.2221G>C	XP_005246189.1:p.Ala741Pro
XM_005246133.1:c.2191G>C	XP_005246190.1:p.Ala731Pro
XM_005246134.1:c.2149G>C	XP_005246191.1:p.Ala717Pro
XM_005246135.1:c.2119G>C	XP_005246192.1:p.Ala707Pro
XM_005246136.1:c.1963G>C	XP_005246193.1:p.Ala655Pro
XM_005246141.3:c.823+3609G>C	XP_005246198.1:n.823+3609G>C
XM_005246142.1:c.751+3609G>C	XP_005246199.1:n.751+3609G>C
XM_006712842.2:c.2632G>C	XP_006712905.1:p.Ala878Pro
XM_006712843.2:c.2527G>C	XP_006712906.1:p.Ala843Pro
XM_006712844.1:c.2461G>C	XP_006712907.1:p.Ala821Pro
XM_006712845.2:c.2443G>C	XP_006712908.1:p.Ala815Pro
XM_006712846.1:c.2347G>C	XP_006712909.1:p.Ala783Pro
XM_006712847.1:c.2287G>C	XP_006712910.1:p.Ala763Pro
XM_006712848.1:c.2215G>C	XP_006712911.1:p.Ala739Pro
XM_011512152.1:c.2767G>C	XP_011510454.1:p.Ala923Pro
XM_011512153.1:c.2749G>C	XP_011510455.1:p.Ala917Pro
XM_011512154.1:c.2737G>C	XP_011510456.1:p.Ala913Pro
XM_011512155.1:c.2728G>C	XP_011510457.1:p.Ala910Pro
XM_011512156.1:c.2695G>C	XP_011510458.1:p.Ala899Pro
XM_011512157.1:c.2581G>C	XP_011510459.1:p.Ala861Pro
XM_011512158.1:c.2509G>C	XP_011510460.1:p.Ala837Pro
XM_011512159.1:c.2317G>C	XP_011510461.1:p.Ala773Pro
XM_011512160.1:c.1555+3609G>C	XP_011510462.1:n.1555+3609G>C
XM_011512161.1:c.1555+3609G>C	XP_011510463.1:n.1555+3609G>C
XM_011512162.1:c.1369+3609G>C	XP_011510464.1:n.1369+3609G>C
XM_011512163.1:c.1297+3609G>C	XP_011510465.1:n.1297+3609G>C
XM_011512164.1:c.751+3609G>C	XP_011510466.1:n.751+3609G>C
XM_011512165.1:c.721+3609G>C	XP_011510467.1:n.721+3609G>C
XM_011512166.1:c.1516+3609G>C	XP_011510468.1:n.1516+3609G>C
XR_923063.1:n.1605+3609G>C
XM_005246141.4:c.823+3609G>C	XP_005246198.1:n.823+3609G>C
XM_005246142.2:c.751+3609G>C	XP_005246199.1:n.751+3609G>C
XM_017005253.2:c.1522+3609G>C	XP_016860742.1:n.1522+3609G>C
XM_017005254.2:c.1522+3609G>C	XP_016860743.1:n.1522+3609G>C
XM_017005255.2:c.1450+3609G>C	XP_016860744.1:n.1450+3609G>C
XM_017005256.2:c.1336+3609G>C	XP_016860745.1:n.1336+3609G>C
XM_017005257.2:c.1387+3609G>C	XP_016860746.1:n.1387+3609G>C
XM_017005258.2:c.1336+3609G>C	XP_016860747.1:n.1336+3609G>C
XM_017005260.2:c.1162+3609G>C	XP_016860749.1:n.1162+3609G>C
XM_017005261.2:c.1099+3609G>C	XP_016860750.1:n.1099+3609G>C
XM_017005262.2:c.1099+3609G>C	XP_016860751.1:n.1099+3609G>C
XM_017005263.2:c.937+3609G>C	XP_016860752.1:n.937+3609G>C
XR_001739039.2:n.2803G>C
XR_001739040.1:n.2968G>C
XR_001739041.2:n.2764G>C
XR_001739042.2:n.2740G>C
XR_001739043.1:n.2716G>C
XR_001739044.2:n.2731G>C
XR_001739045.2:n.2701G>C
XR_001739046.1:n.3048G>C
XR_001739047.2:n.2617G>C
XR_001739048.1:n.2806G>C
XR_001739049.2:n.2551G>C
XR_001739050.2:n.2512G>C
XR_001739051.2:n.2479G>C
XR_001739052.2:n.2452G>C
XR_001739053.1:n.2441G>C
XR_001739054.1:n.2363G>C
XR_001739055.2:n.2380G>C
XR_001739056.2:n.2365G>C
XR_001739057.1:n.2381G>C
XR_001739058.1:n.2560G>C
XR_001739059.2:n.2293G>C
XR_001739060.1:n.2267G>C
XR_001739061.1:n.2309G>C
XR_001739062.1:n.2486G>C
XR_001739063.1:n.2193G>C
XR_001739064.1:n.2454G>C
XR_001739065.1:n.2398G>C
XR_001739066.1:n.2195G>C
XR_001739067.1:n.2102G>C
XR_001739068.1:n.2123G>C
XR_001739069.1:n.2300G>C
XR_001739070.1:n.2164G>C
XR_001739071.1:n.2022G>C
XR_001739072.1:n.2268G>C
XR_001739073.2:n.1591+3609G>C
XR_002959364.1:n.2194G>C
NM_001137550.2:c.1459+3609G>C MANE Select	NP_001131022.1:n.1459+3609G>C
NM_001137552.2:c.2101G>C	NP_001131024.1:p.Ala701Pro
NM_001137553.2:c.1933G>C	NP_001131025.1:p.Ala645Pro
NM_004735.4:c.2029G>C	NP_004726.2:p.Ala677Pro
NM_001137551.2:c.721+3609G>C	NP_001131023.1:n.721+3609G>C