Canonical Allele Identifier: CA351204677

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672560C>G (hg19) ; chr2:g.237763917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763917C>G , CM000664.2:g.237763917C>G	GRCh38
NC_000002.11:g.238672560C>G , CM000664.1:g.238672560C>G	GRCh37
NC_000002.10:g.238337299C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3712C>G
ENST00000698098.1:c.955+3712C>G	ENSP00000513562.1:n.955+3712C>G
ENST00000308482.14:c.1459+3712C>G MANE Select	ENSP00000310109.9:n.1459+3712C>G
ENST00000244815.9:c.2132C>G	ENSP00000244815.5:p.Ser711Ter
ENST00000289175.10:c.2036C>G	ENSP00000289175.6:p.Ser679Ter
ENST00000308482.13:c.1459+3712C>G	ENSP00000310109.9:n.1459+3712C>G
ENST00000392000.4:c.2204C>G	ENSP00000375857.4:p.Ser735Ter
ENST00000483443.1:n.235+3712C>G
NM_001137550.1:c.1459+3712C>G	NP_001131022.1:n.1459+3712C>G
NM_001137551.1:c.721+3712C>G	NP_001131023.1:n.721+3712C>G
NM_001137552.1:c.2204C>G	NP_001131024.1:p.Ser735Ter
NM_001137553.1:c.2036C>G	NP_001131025.1:p.Ser679Ter
NM_004735.3:c.2132C>G	NP_004726.2:p.Ser711Ter
XM_005246112.3:c.2837C>G	XP_005246169.1:p.Ser946Ter
XM_005246115.3:c.2792C>G	XP_005246172.1:p.Ser931Ter
XM_005246116.3:c.2774C>G	XP_005246173.1:p.Ser925Ter
XM_005246118.3:c.2729C>G	XP_005246175.1:p.Ser910Ter
XM_005246119.3:c.2726C>G	XP_005246176.1:p.Ser909Ter
XM_005246120.3:c.2690C>G	XP_005246177.1:p.Ser897Ter
XM_005246121.3:c.2675C>G	XP_005246178.1:p.Ser892Ter
XM_005246122.3:c.2663C>G	XP_005246179.1:p.Ser888Ter
XM_005246124.1:c.2645C>G	XP_005246181.1:p.Ser882Ter
XM_005246125.3:c.2624C>G	XP_005246182.1:p.Ser875Ter
XM_005246126.3:c.2585C>G	XP_005246183.1:p.Ser862Ter
XM_005246128.1:c.2552C>G	XP_005246185.1:p.Ser851Ter
XM_005246129.3:c.2513C>G	XP_005246186.1:p.Ser838Ter
XM_005246130.3:c.2486C>G	XP_005246187.1:p.Ser829Ter
XM_005246131.3:c.2399C>G	XP_005246188.1:p.Ser800Ter
XM_005246132.3:c.2324C>G	XP_005246189.1:p.Ser775Ter
XM_005246133.1:c.2294C>G	XP_005246190.1:p.Ser765Ter
XM_005246134.1:c.2252C>G	XP_005246191.1:p.Ser751Ter
XM_005246135.1:c.2222C>G	XP_005246192.1:p.Ser741Ter
XM_005246136.1:c.2066C>G	XP_005246193.1:p.Ser689Ter
XM_005246141.3:c.823+3712C>G	XP_005246198.1:n.823+3712C>G
XM_005246142.1:c.751+3712C>G	XP_005246199.1:n.751+3712C>G
XM_006712842.2:c.2735C>G	XP_006712905.1:p.Ser912Ter
XM_006712843.2:c.2630C>G	XP_006712906.1:p.Ser877Ter
XM_006712844.1:c.2564C>G	XP_006712907.1:p.Ser855Ter
XM_006712845.2:c.2546C>G	XP_006712908.1:p.Ser849Ter
XM_006712846.1:c.2450C>G	XP_006712909.1:p.Ser817Ter
XM_006712847.1:c.2390C>G	XP_006712910.1:p.Ser797Ter
XM_006712848.1:c.2318C>G	XP_006712911.1:p.Ser773Ter
XM_011512152.1:c.2870C>G	XP_011510454.1:p.Ser957Ter
XM_011512153.1:c.2852C>G	XP_011510455.1:p.Ser951Ter
XM_011512154.1:c.2840C>G	XP_011510456.1:p.Ser947Ter
XM_011512155.1:c.2831C>G	XP_011510457.1:p.Ser944Ter
XM_011512156.1:c.2798C>G	XP_011510458.1:p.Ser933Ter
XM_011512157.1:c.2684C>G	XP_011510459.1:p.Ser895Ter
XM_011512158.1:c.2612C>G	XP_011510460.1:p.Ser871Ter
XM_011512159.1:c.2420C>G	XP_011510461.1:p.Ser807Ter
XM_011512160.1:c.1555+3712C>G	XP_011510462.1:n.1555+3712C>G
XM_011512161.1:c.1555+3712C>G	XP_011510463.1:n.1555+3712C>G
XM_011512162.1:c.1369+3712C>G	XP_011510464.1:n.1369+3712C>G
XM_011512163.1:c.1297+3712C>G	XP_011510465.1:n.1297+3712C>G
XM_011512164.1:c.751+3712C>G	XP_011510466.1:n.751+3712C>G
XM_011512165.1:c.721+3712C>G	XP_011510467.1:n.721+3712C>G
XM_011512166.1:c.1516+3712C>G	XP_011510468.1:n.1516+3712C>G
XR_923063.1:n.1605+3712C>G
XM_005246141.4:c.823+3712C>G	XP_005246198.1:n.823+3712C>G
XM_005246142.2:c.751+3712C>G	XP_005246199.1:n.751+3712C>G
XM_017005253.2:c.1522+3712C>G	XP_016860742.1:n.1522+3712C>G
XM_017005254.2:c.1522+3712C>G	XP_016860743.1:n.1522+3712C>G
XM_017005255.2:c.1450+3712C>G	XP_016860744.1:n.1450+3712C>G
XM_017005256.2:c.1336+3712C>G	XP_016860745.1:n.1336+3712C>G
XM_017005257.2:c.1387+3712C>G	XP_016860746.1:n.1387+3712C>G
XM_017005258.2:c.1336+3712C>G	XP_016860747.1:n.1336+3712C>G
XM_017005260.2:c.1162+3712C>G	XP_016860749.1:n.1162+3712C>G
XM_017005261.2:c.1099+3712C>G	XP_016860750.1:n.1099+3712C>G
XM_017005262.2:c.1099+3712C>G	XP_016860751.1:n.1099+3712C>G
XM_017005263.2:c.937+3712C>G	XP_016860752.1:n.937+3712C>G
XR_001739039.2:n.2906C>G
XR_001739040.1:n.3071C>G
XR_001739041.2:n.2867C>G
XR_001739042.2:n.2843C>G
XR_001739043.1:n.2819C>G
XR_001739044.2:n.2834C>G
XR_001739045.2:n.2804C>G
XR_001739046.1:n.3151C>G
XR_001739047.2:n.2720C>G
XR_001739048.1:n.2909C>G
XR_001739049.2:n.2654C>G
XR_001739050.2:n.2615C>G
XR_001739051.2:n.2582C>G
XR_001739052.2:n.2555C>G
XR_001739053.1:n.2544C>G
XR_001739054.1:n.2466C>G
XR_001739055.2:n.2483C>G
XR_001739056.2:n.2468C>G
XR_001739057.1:n.2484C>G
XR_001739058.1:n.2663C>G
XR_001739059.2:n.2396C>G
XR_001739060.1:n.2370C>G
XR_001739061.1:n.2412C>G
XR_001739062.1:n.2589C>G
XR_001739063.1:n.2296C>G
XR_001739064.1:n.2557C>G
XR_001739065.1:n.2501C>G
XR_001739066.1:n.2298C>G
XR_001739067.1:n.2205C>G
XR_001739068.1:n.2226C>G
XR_001739069.1:n.2403C>G
XR_001739070.1:n.2267C>G
XR_001739071.1:n.2125C>G
XR_001739072.1:n.2371C>G
XR_001739073.2:n.1591+3712C>G
XR_002959364.1:n.2297C>G
NM_001137550.2:c.1459+3712C>G MANE Select	NP_001131022.1:n.1459+3712C>G
NM_001137552.2:c.2204C>G	NP_001131024.1:p.Ser735Ter
NM_001137553.2:c.2036C>G	NP_001131025.1:p.Ser679Ter
NM_004735.4:c.2132C>G	NP_004726.2:p.Ser711Ter
NM_001137551.2:c.721+3712C>G	NP_001131023.1:n.721+3712C>G