Canonical Allele Identifier: CA351204118

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672474A>C (hg19) ; chr2:g.237763831A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763831A>C , CM000664.2:g.237763831A>C	GRCh38
NC_000002.11:g.238672474A>C , CM000664.1:g.238672474A>C	GRCh37
NC_000002.10:g.238337213A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3626A>C
ENST00000698098.1:c.955+3626A>C	ENSP00000513562.1:n.955+3626A>C
ENST00000308482.14:c.1459+3626A>C MANE Select	ENSP00000310109.9:n.1459+3626A>C
ENST00000244815.9:c.2046A>C	ENSP00000244815.5:p.Lys682Asn
ENST00000289175.10:c.1950A>C	ENSP00000289175.6:p.Lys650Asn
ENST00000308482.13:c.1459+3626A>C	ENSP00000310109.9:n.1459+3626A>C
ENST00000392000.4:c.2118A>C	ENSP00000375857.4:p.Lys706Asn
ENST00000483443.1:n.235+3626A>C
NM_001137550.1:c.1459+3626A>C	NP_001131022.1:n.1459+3626A>C
NM_001137551.1:c.721+3626A>C	NP_001131023.1:n.721+3626A>C
NM_001137552.1:c.2118A>C	NP_001131024.1:p.Lys706Asn
NM_001137553.1:c.1950A>C	NP_001131025.1:p.Lys650Asn
NM_004735.3:c.2046A>C	NP_004726.2:p.Lys682Asn
XM_005246112.3:c.2751A>C	XP_005246169.1:p.Lys917Asn
XM_005246115.3:c.2706A>C	XP_005246172.1:p.Lys902Asn
XM_005246116.3:c.2688A>C	XP_005246173.1:p.Lys896Asn
XM_005246118.3:c.2643A>C	XP_005246175.1:p.Lys881Asn
XM_005246119.3:c.2640A>C	XP_005246176.1:p.Lys880Asn
XM_005246120.3:c.2604A>C	XP_005246177.1:p.Lys868Asn
XM_005246121.3:c.2589A>C	XP_005246178.1:p.Lys863Asn
XM_005246122.3:c.2577A>C	XP_005246179.1:p.Lys859Asn
XM_005246124.1:c.2559A>C	XP_005246181.1:p.Lys853Asn
XM_005246125.3:c.2538A>C	XP_005246182.1:p.Lys846Asn
XM_005246126.3:c.2499A>C	XP_005246183.1:p.Lys833Asn
XM_005246128.1:c.2466A>C	XP_005246185.1:p.Lys822Asn
XM_005246129.3:c.2427A>C	XP_005246186.1:p.Lys809Asn
XM_005246130.3:c.2400A>C	XP_005246187.1:p.Lys800Asn
XM_005246131.3:c.2313A>C	XP_005246188.1:p.Lys771Asn
XM_005246132.3:c.2238A>C	XP_005246189.1:p.Lys746Asn
XM_005246133.1:c.2208A>C	XP_005246190.1:p.Lys736Asn
XM_005246134.1:c.2166A>C	XP_005246191.1:p.Lys722Asn
XM_005246135.1:c.2136A>C	XP_005246192.1:p.Lys712Asn
XM_005246136.1:c.1980A>C	XP_005246193.1:p.Lys660Asn
XM_005246141.3:c.823+3626A>C	XP_005246198.1:n.823+3626A>C
XM_005246142.1:c.751+3626A>C	XP_005246199.1:n.751+3626A>C
XM_006712842.2:c.2649A>C	XP_006712905.1:p.Lys883Asn
XM_006712843.2:c.2544A>C	XP_006712906.1:p.Lys848Asn
XM_006712844.1:c.2478A>C	XP_006712907.1:p.Lys826Asn
XM_006712845.2:c.2460A>C	XP_006712908.1:p.Lys820Asn
XM_006712846.1:c.2364A>C	XP_006712909.1:p.Lys788Asn
XM_006712847.1:c.2304A>C	XP_006712910.1:p.Lys768Asn
XM_006712848.1:c.2232A>C	XP_006712911.1:p.Lys744Asn
XM_011512152.1:c.2784A>C	XP_011510454.1:p.Lys928Asn
XM_011512153.1:c.2766A>C	XP_011510455.1:p.Lys922Asn
XM_011512154.1:c.2754A>C	XP_011510456.1:p.Lys918Asn
XM_011512155.1:c.2745A>C	XP_011510457.1:p.Lys915Asn
XM_011512156.1:c.2712A>C	XP_011510458.1:p.Lys904Asn
XM_011512157.1:c.2598A>C	XP_011510459.1:p.Lys866Asn
XM_011512158.1:c.2526A>C	XP_011510460.1:p.Lys842Asn
XM_011512159.1:c.2334A>C	XP_011510461.1:p.Lys778Asn
XM_011512160.1:c.1555+3626A>C	XP_011510462.1:n.1555+3626A>C
XM_011512161.1:c.1555+3626A>C	XP_011510463.1:n.1555+3626A>C
XM_011512162.1:c.1369+3626A>C	XP_011510464.1:n.1369+3626A>C
XM_011512163.1:c.1297+3626A>C	XP_011510465.1:n.1297+3626A>C
XM_011512164.1:c.751+3626A>C	XP_011510466.1:n.751+3626A>C
XM_011512165.1:c.721+3626A>C	XP_011510467.1:n.721+3626A>C
XM_011512166.1:c.1516+3626A>C	XP_011510468.1:n.1516+3626A>C
XR_923063.1:n.1605+3626A>C
XM_005246141.4:c.823+3626A>C	XP_005246198.1:n.823+3626A>C
XM_005246142.2:c.751+3626A>C	XP_005246199.1:n.751+3626A>C
XM_017005253.2:c.1522+3626A>C	XP_016860742.1:n.1522+3626A>C
XM_017005254.2:c.1522+3626A>C	XP_016860743.1:n.1522+3626A>C
XM_017005255.2:c.1450+3626A>C	XP_016860744.1:n.1450+3626A>C
XM_017005256.2:c.1336+3626A>C	XP_016860745.1:n.1336+3626A>C
XM_017005257.2:c.1387+3626A>C	XP_016860746.1:n.1387+3626A>C
XM_017005258.2:c.1336+3626A>C	XP_016860747.1:n.1336+3626A>C
XM_017005260.2:c.1162+3626A>C	XP_016860749.1:n.1162+3626A>C
XM_017005261.2:c.1099+3626A>C	XP_016860750.1:n.1099+3626A>C
XM_017005262.2:c.1099+3626A>C	XP_016860751.1:n.1099+3626A>C
XM_017005263.2:c.937+3626A>C	XP_016860752.1:n.937+3626A>C
XR_001739039.2:n.2820A>C
XR_001739040.1:n.2985A>C
XR_001739041.2:n.2781A>C
XR_001739042.2:n.2757A>C
XR_001739043.1:n.2733A>C
XR_001739044.2:n.2748A>C
XR_001739045.2:n.2718A>C
XR_001739046.1:n.3065A>C
XR_001739047.2:n.2634A>C
XR_001739048.1:n.2823A>C
XR_001739049.2:n.2568A>C
XR_001739050.2:n.2529A>C
XR_001739051.2:n.2496A>C
XR_001739052.2:n.2469A>C
XR_001739053.1:n.2458A>C
XR_001739054.1:n.2380A>C
XR_001739055.2:n.2397A>C
XR_001739056.2:n.2382A>C
XR_001739057.1:n.2398A>C
XR_001739058.1:n.2577A>C
XR_001739059.2:n.2310A>C
XR_001739060.1:n.2284A>C
XR_001739061.1:n.2326A>C
XR_001739062.1:n.2503A>C
XR_001739063.1:n.2210A>C
XR_001739064.1:n.2471A>C
XR_001739065.1:n.2415A>C
XR_001739066.1:n.2212A>C
XR_001739067.1:n.2119A>C
XR_001739068.1:n.2140A>C
XR_001739069.1:n.2317A>C
XR_001739070.1:n.2181A>C
XR_001739071.1:n.2039A>C
XR_001739072.1:n.2285A>C
XR_001739073.2:n.1591+3626A>C
XR_002959364.1:n.2211A>C
NM_001137550.2:c.1459+3626A>C MANE Select	NP_001131022.1:n.1459+3626A>C
NM_001137552.2:c.2118A>C	NP_001131024.1:p.Lys706Asn
NM_001137553.2:c.1950A>C	NP_001131025.1:p.Lys650Asn
NM_004735.4:c.2046A>C	NP_004726.2:p.Lys682Asn
NM_001137551.2:c.721+3626A>C	NP_001131023.1:n.721+3626A>C