Canonical Allele Identifier: CA431937111
Gene: LRRFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.238672510A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237763867A>T , CM000664.2:g.237763867A>T GRCh38
NC_000002.11:g.238672510A>T , CM000664.1:g.238672510A>T GRCh37
NC_000002.10:g.238337249A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698097.1:c.1181+3662A>T
ENST00000698098.1:c.955+3662A>T ENSP00000513562.1:n.955+3662A>T
ENST00000308482.14:c.1459+3662A>T MANE Select ENSP00000310109.9:n.1459+3662A>T
ENST00000244815.9:c.2082A>T ENSP00000244815.5:p.Pro694=
ENST00000289175.10:c.1986A>T ENSP00000289175.6:p.Pro662=
ENST00000308482.13:c.1459+3662A>T ENSP00000310109.9:n.1459+3662A>T
ENST00000392000.4:c.2154A>T ENSP00000375857.4:p.Pro718=
ENST00000483443.1:n.235+3662A>T
NM_001137550.1:c.1459+3662A>T NP_001131022.1:n.1459+3662A>T
NM_001137551.1:c.721+3662A>T NP_001131023.1:n.721+3662A>T
NM_001137552.1:c.2154A>T NP_001131024.1:p.Pro718=
NM_001137553.1:c.1986A>T NP_001131025.1:p.Pro662=
NM_004735.3:c.2082A>T NP_004726.2:p.Pro694=
XM_005246112.3:c.2787A>T XP_005246169.1:p.Pro929=
XM_005246115.3:c.2742A>T XP_005246172.1:p.Pro914=
XM_005246116.3:c.2724A>T XP_005246173.1:p.Pro908=
XM_005246118.3:c.2679A>T XP_005246175.1:p.Pro893=
XM_005246119.3:c.2676A>T XP_005246176.1:p.Pro892=
XM_005246120.3:c.2640A>T XP_005246177.1:p.Pro880=
XM_005246121.3:c.2625A>T XP_005246178.1:p.Pro875=
XM_005246122.3:c.2613A>T XP_005246179.1:p.Pro871=
XM_005246124.1:c.2595A>T XP_005246181.1:p.Pro865=
XM_005246125.3:c.2574A>T XP_005246182.1:p.Pro858=
XM_005246126.3:c.2535A>T XP_005246183.1:p.Pro845=
XM_005246128.1:c.2502A>T XP_005246185.1:p.Pro834=
XM_005246129.3:c.2463A>T XP_005246186.1:p.Pro821=
XM_005246130.3:c.2436A>T XP_005246187.1:p.Pro812=
XM_005246131.3:c.2349A>T XP_005246188.1:p.Pro783=
XM_005246132.3:c.2274A>T XP_005246189.1:p.Pro758=
XM_005246133.1:c.2244A>T XP_005246190.1:p.Pro748=
XM_005246134.1:c.2202A>T XP_005246191.1:p.Pro734=
XM_005246135.1:c.2172A>T XP_005246192.1:p.Pro724=
XM_005246136.1:c.2016A>T XP_005246193.1:p.Pro672=
XM_005246141.3:c.823+3662A>T XP_005246198.1:n.823+3662A>T
XM_005246142.1:c.751+3662A>T XP_005246199.1:n.751+3662A>T
XM_006712842.2:c.2685A>T XP_006712905.1:p.Pro895=
XM_006712843.2:c.2580A>T XP_006712906.1:p.Pro860=
XM_006712844.1:c.2514A>T XP_006712907.1:p.Pro838=
XM_006712845.2:c.2496A>T XP_006712908.1:p.Pro832=
XM_006712846.1:c.2400A>T XP_006712909.1:p.Pro800=
XM_006712847.1:c.2340A>T XP_006712910.1:p.Pro780=
XM_006712848.1:c.2268A>T XP_006712911.1:p.Pro756=
XM_011512152.1:c.2820A>T XP_011510454.1:p.Pro940=
XM_011512153.1:c.2802A>T XP_011510455.1:p.Pro934=
XM_011512154.1:c.2790A>T XP_011510456.1:p.Pro930=
XM_011512155.1:c.2781A>T XP_011510457.1:p.Pro927=
XM_011512156.1:c.2748A>T XP_011510458.1:p.Pro916=
XM_011512157.1:c.2634A>T XP_011510459.1:p.Pro878=
XM_011512158.1:c.2562A>T XP_011510460.1:p.Pro854=
XM_011512159.1:c.2370A>T XP_011510461.1:p.Pro790=
XM_011512160.1:c.1555+3662A>T XP_011510462.1:n.1555+3662A>T
XM_011512161.1:c.1555+3662A>T XP_011510463.1:n.1555+3662A>T
XM_011512162.1:c.1369+3662A>T XP_011510464.1:n.1369+3662A>T
XM_011512163.1:c.1297+3662A>T XP_011510465.1:n.1297+3662A>T
XM_011512164.1:c.751+3662A>T XP_011510466.1:n.751+3662A>T
XM_011512165.1:c.721+3662A>T XP_011510467.1:n.721+3662A>T
XM_011512166.1:c.1516+3662A>T XP_011510468.1:n.1516+3662A>T
XR_923063.1:n.1605+3662A>T
XM_005246141.4:c.823+3662A>T XP_005246198.1:n.823+3662A>T
XM_005246142.2:c.751+3662A>T XP_005246199.1:n.751+3662A>T
XM_017005253.2:c.1522+3662A>T XP_016860742.1:n.1522+3662A>T
XM_017005254.2:c.1522+3662A>T XP_016860743.1:n.1522+3662A>T
XM_017005255.2:c.1450+3662A>T XP_016860744.1:n.1450+3662A>T
XM_017005256.2:c.1336+3662A>T XP_016860745.1:n.1336+3662A>T
XM_017005257.2:c.1387+3662A>T XP_016860746.1:n.1387+3662A>T
XM_017005258.2:c.1336+3662A>T XP_016860747.1:n.1336+3662A>T
XM_017005260.2:c.1162+3662A>T XP_016860749.1:n.1162+3662A>T
XM_017005261.2:c.1099+3662A>T XP_016860750.1:n.1099+3662A>T
XM_017005262.2:c.1099+3662A>T XP_016860751.1:n.1099+3662A>T
XM_017005263.2:c.937+3662A>T XP_016860752.1:n.937+3662A>T
XR_001739039.2:n.2856A>T
XR_001739040.1:n.3021A>T
XR_001739041.2:n.2817A>T
XR_001739042.2:n.2793A>T
XR_001739043.1:n.2769A>T
XR_001739044.2:n.2784A>T
XR_001739045.2:n.2754A>T
XR_001739046.1:n.3101A>T
XR_001739047.2:n.2670A>T
XR_001739048.1:n.2859A>T
XR_001739049.2:n.2604A>T
XR_001739050.2:n.2565A>T
XR_001739051.2:n.2532A>T
XR_001739052.2:n.2505A>T
XR_001739053.1:n.2494A>T
XR_001739054.1:n.2416A>T
XR_001739055.2:n.2433A>T
XR_001739056.2:n.2418A>T
XR_001739057.1:n.2434A>T
XR_001739058.1:n.2613A>T
XR_001739059.2:n.2346A>T
XR_001739060.1:n.2320A>T
XR_001739061.1:n.2362A>T
XR_001739062.1:n.2539A>T
XR_001739063.1:n.2246A>T
XR_001739064.1:n.2507A>T
XR_001739065.1:n.2451A>T
XR_001739066.1:n.2248A>T
XR_001739067.1:n.2155A>T
XR_001739068.1:n.2176A>T
XR_001739069.1:n.2353A>T
XR_001739070.1:n.2217A>T
XR_001739071.1:n.2075A>T
XR_001739072.1:n.2321A>T
XR_001739073.2:n.1591+3662A>T
XR_002959364.1:n.2247A>T
NM_001137550.2:c.1459+3662A>T MANE Select NP_001131022.1:n.1459+3662A>T
NM_001137552.2:c.2154A>T NP_001131024.1:p.Pro718=
NM_001137553.2:c.1986A>T NP_001131025.1:p.Pro662=
NM_004735.4:c.2082A>T NP_004726.2:p.Pro694=
NM_001137551.2:c.721+3662A>T NP_001131023.1:n.721+3662A>T