Canonical Allele Identifier: CA431937355
Gene: LRRFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.238672561A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237763918A>C , CM000664.2:g.237763918A>C GRCh38
NC_000002.11:g.238672561A>C , CM000664.1:g.238672561A>C GRCh37
NC_000002.10:g.238337300A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698097.1:c.1181+3713A>C
ENST00000698098.1:c.955+3713A>C ENSP00000513562.1:n.955+3713A>C
ENST00000308482.14:c.1459+3713A>C MANE Select ENSP00000310109.9:n.1459+3713A>C
ENST00000244815.9:c.2133A>C ENSP00000244815.5:p.Ser711=
ENST00000289175.10:c.2037A>C ENSP00000289175.6:p.Ser679=
ENST00000308482.13:c.1459+3713A>C ENSP00000310109.9:n.1459+3713A>C
ENST00000392000.4:c.2205A>C ENSP00000375857.4:p.Ser735=
ENST00000483443.1:n.235+3713A>C
NM_001137550.1:c.1459+3713A>C NP_001131022.1:n.1459+3713A>C
NM_001137551.1:c.721+3713A>C NP_001131023.1:n.721+3713A>C
NM_001137552.1:c.2205A>C NP_001131024.1:p.Ser735=
NM_001137553.1:c.2037A>C NP_001131025.1:p.Ser679=
NM_004735.3:c.2133A>C NP_004726.2:p.Ser711=
XM_005246112.3:c.2838A>C XP_005246169.1:p.Ser946=
XM_005246115.3:c.2793A>C XP_005246172.1:p.Ser931=
XM_005246116.3:c.2775A>C XP_005246173.1:p.Ser925=
XM_005246118.3:c.2730A>C XP_005246175.1:p.Ser910=
XM_005246119.3:c.2727A>C XP_005246176.1:p.Ser909=
XM_005246120.3:c.2691A>C XP_005246177.1:p.Ser897=
XM_005246121.3:c.2676A>C XP_005246178.1:p.Ser892=
XM_005246122.3:c.2664A>C XP_005246179.1:p.Ser888=
XM_005246124.1:c.2646A>C XP_005246181.1:p.Ser882=
XM_005246125.3:c.2625A>C XP_005246182.1:p.Ser875=
XM_005246126.3:c.2586A>C XP_005246183.1:p.Ser862=
XM_005246128.1:c.2553A>C XP_005246185.1:p.Ser851=
XM_005246129.3:c.2514A>C XP_005246186.1:p.Ser838=
XM_005246130.3:c.2487A>C XP_005246187.1:p.Ser829=
XM_005246131.3:c.2400A>C XP_005246188.1:p.Ser800=
XM_005246132.3:c.2325A>C XP_005246189.1:p.Ser775=
XM_005246133.1:c.2295A>C XP_005246190.1:p.Ser765=
XM_005246134.1:c.2253A>C XP_005246191.1:p.Ser751=
XM_005246135.1:c.2223A>C XP_005246192.1:p.Ser741=
XM_005246136.1:c.2067A>C XP_005246193.1:p.Ser689=
XM_005246141.3:c.823+3713A>C XP_005246198.1:n.823+3713A>C
XM_005246142.1:c.751+3713A>C XP_005246199.1:n.751+3713A>C
XM_006712842.2:c.2736A>C XP_006712905.1:p.Ser912=
XM_006712843.2:c.2631A>C XP_006712906.1:p.Ser877=
XM_006712844.1:c.2565A>C XP_006712907.1:p.Ser855=
XM_006712845.2:c.2547A>C XP_006712908.1:p.Ser849=
XM_006712846.1:c.2451A>C XP_006712909.1:p.Ser817=
XM_006712847.1:c.2391A>C XP_006712910.1:p.Ser797=
XM_006712848.1:c.2319A>C XP_006712911.1:p.Ser773=
XM_011512152.1:c.2871A>C XP_011510454.1:p.Ser957=
XM_011512153.1:c.2853A>C XP_011510455.1:p.Ser951=
XM_011512154.1:c.2841A>C XP_011510456.1:p.Ser947=
XM_011512155.1:c.2832A>C XP_011510457.1:p.Ser944=
XM_011512156.1:c.2799A>C XP_011510458.1:p.Ser933=
XM_011512157.1:c.2685A>C XP_011510459.1:p.Ser895=
XM_011512158.1:c.2613A>C XP_011510460.1:p.Ser871=
XM_011512159.1:c.2421A>C XP_011510461.1:p.Ser807=
XM_011512160.1:c.1555+3713A>C XP_011510462.1:n.1555+3713A>C
XM_011512161.1:c.1555+3713A>C XP_011510463.1:n.1555+3713A>C
XM_011512162.1:c.1369+3713A>C XP_011510464.1:n.1369+3713A>C
XM_011512163.1:c.1297+3713A>C XP_011510465.1:n.1297+3713A>C
XM_011512164.1:c.751+3713A>C XP_011510466.1:n.751+3713A>C
XM_011512165.1:c.721+3713A>C XP_011510467.1:n.721+3713A>C
XM_011512166.1:c.1516+3713A>C XP_011510468.1:n.1516+3713A>C
XR_923063.1:n.1605+3713A>C
XM_005246141.4:c.823+3713A>C XP_005246198.1:n.823+3713A>C
XM_005246142.2:c.751+3713A>C XP_005246199.1:n.751+3713A>C
XM_017005253.2:c.1522+3713A>C XP_016860742.1:n.1522+3713A>C
XM_017005254.2:c.1522+3713A>C XP_016860743.1:n.1522+3713A>C
XM_017005255.2:c.1450+3713A>C XP_016860744.1:n.1450+3713A>C
XM_017005256.2:c.1336+3713A>C XP_016860745.1:n.1336+3713A>C
XM_017005257.2:c.1387+3713A>C XP_016860746.1:n.1387+3713A>C
XM_017005258.2:c.1336+3713A>C XP_016860747.1:n.1336+3713A>C
XM_017005260.2:c.1162+3713A>C XP_016860749.1:n.1162+3713A>C
XM_017005261.2:c.1099+3713A>C XP_016860750.1:n.1099+3713A>C
XM_017005262.2:c.1099+3713A>C XP_016860751.1:n.1099+3713A>C
XM_017005263.2:c.937+3713A>C XP_016860752.1:n.937+3713A>C
XR_001739039.2:n.2907A>C
XR_001739040.1:n.3072A>C
XR_001739041.2:n.2868A>C
XR_001739042.2:n.2844A>C
XR_001739043.1:n.2820A>C
XR_001739044.2:n.2835A>C
XR_001739045.2:n.2805A>C
XR_001739046.1:n.3152A>C
XR_001739047.2:n.2721A>C
XR_001739048.1:n.2910A>C
XR_001739049.2:n.2655A>C
XR_001739050.2:n.2616A>C
XR_001739051.2:n.2583A>C
XR_001739052.2:n.2556A>C
XR_001739053.1:n.2545A>C
XR_001739054.1:n.2467A>C
XR_001739055.2:n.2484A>C
XR_001739056.2:n.2469A>C
XR_001739057.1:n.2485A>C
XR_001739058.1:n.2664A>C
XR_001739059.2:n.2397A>C
XR_001739060.1:n.2371A>C
XR_001739061.1:n.2413A>C
XR_001739062.1:n.2590A>C
XR_001739063.1:n.2297A>C
XR_001739064.1:n.2558A>C
XR_001739065.1:n.2502A>C
XR_001739066.1:n.2299A>C
XR_001739067.1:n.2206A>C
XR_001739068.1:n.2227A>C
XR_001739069.1:n.2404A>C
XR_001739070.1:n.2268A>C
XR_001739071.1:n.2126A>C
XR_001739072.1:n.2372A>C
XR_001739073.2:n.1591+3713A>C
XR_002959364.1:n.2298A>C
NM_001137550.2:c.1459+3713A>C MANE Select NP_001131022.1:n.1459+3713A>C
NM_001137552.2:c.2205A>C NP_001131024.1:p.Ser735=
NM_001137553.2:c.2037A>C NP_001131025.1:p.Ser679=
NM_004735.4:c.2133A>C NP_004726.2:p.Ser711=
NM_001137551.2:c.721+3713A>C NP_001131023.1:n.721+3713A>C