Canonical Allele Identifier: CA351204598

Gene: LRRFIP1

Linked Data

• gnomAD v4: 2-237763898-C-T
• MyVariant Identifiers: chr2:g.238672541C>T (hg19) ; chr2:g.237763898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763898C>T , CM000664.2:g.237763898C>T	GRCh38
NC_000002.11:g.238672541C>T , CM000664.1:g.238672541C>T	GRCh37
NC_000002.10:g.238337280C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3693C>T
ENST00000698098.1:c.955+3693C>T	ENSP00000513562.1:n.955+3693C>T
ENST00000308482.14:c.1459+3693C>T MANE Select	ENSP00000310109.9:n.1459+3693C>T
ENST00000244815.9:c.2113C>T	ENSP00000244815.5:p.Pro705Ser
ENST00000289175.10:c.2017C>T	ENSP00000289175.6:p.Pro673Ser
ENST00000308482.13:c.1459+3693C>T	ENSP00000310109.9:n.1459+3693C>T
ENST00000392000.4:c.2185C>T	ENSP00000375857.4:p.Pro729Ser
ENST00000483443.1:n.235+3693C>T
NM_001137550.1:c.1459+3693C>T	NP_001131022.1:n.1459+3693C>T
NM_001137551.1:c.721+3693C>T	NP_001131023.1:n.721+3693C>T
NM_001137552.1:c.2185C>T	NP_001131024.1:p.Pro729Ser
NM_001137553.1:c.2017C>T	NP_001131025.1:p.Pro673Ser
NM_004735.3:c.2113C>T	NP_004726.2:p.Pro705Ser
XM_005246112.3:c.2818C>T	XP_005246169.1:p.Pro940Ser
XM_005246115.3:c.2773C>T	XP_005246172.1:p.Pro925Ser
XM_005246116.3:c.2755C>T	XP_005246173.1:p.Pro919Ser
XM_005246118.3:c.2710C>T	XP_005246175.1:p.Pro904Ser
XM_005246119.3:c.2707C>T	XP_005246176.1:p.Pro903Ser
XM_005246120.3:c.2671C>T	XP_005246177.1:p.Pro891Ser
XM_005246121.3:c.2656C>T	XP_005246178.1:p.Pro886Ser
XM_005246122.3:c.2644C>T	XP_005246179.1:p.Pro882Ser
XM_005246124.1:c.2626C>T	XP_005246181.1:p.Pro876Ser
XM_005246125.3:c.2605C>T	XP_005246182.1:p.Pro869Ser
XM_005246126.3:c.2566C>T	XP_005246183.1:p.Pro856Ser
XM_005246128.1:c.2533C>T	XP_005246185.1:p.Pro845Ser
XM_005246129.3:c.2494C>T	XP_005246186.1:p.Pro832Ser
XM_005246130.3:c.2467C>T	XP_005246187.1:p.Pro823Ser
XM_005246131.3:c.2380C>T	XP_005246188.1:p.Pro794Ser
XM_005246132.3:c.2305C>T	XP_005246189.1:p.Pro769Ser
XM_005246133.1:c.2275C>T	XP_005246190.1:p.Pro759Ser
XM_005246134.1:c.2233C>T	XP_005246191.1:p.Pro745Ser
XM_005246135.1:c.2203C>T	XP_005246192.1:p.Pro735Ser
XM_005246136.1:c.2047C>T	XP_005246193.1:p.Pro683Ser
XM_005246141.3:c.823+3693C>T	XP_005246198.1:n.823+3693C>T
XM_005246142.1:c.751+3693C>T	XP_005246199.1:n.751+3693C>T
XM_006712842.2:c.2716C>T	XP_006712905.1:p.Pro906Ser
XM_006712843.2:c.2611C>T	XP_006712906.1:p.Pro871Ser
XM_006712844.1:c.2545C>T	XP_006712907.1:p.Pro849Ser
XM_006712845.2:c.2527C>T	XP_006712908.1:p.Pro843Ser
XM_006712846.1:c.2431C>T	XP_006712909.1:p.Pro811Ser
XM_006712847.1:c.2371C>T	XP_006712910.1:p.Pro791Ser
XM_006712848.1:c.2299C>T	XP_006712911.1:p.Pro767Ser
XM_011512152.1:c.2851C>T	XP_011510454.1:p.Pro951Ser
XM_011512153.1:c.2833C>T	XP_011510455.1:p.Pro945Ser
XM_011512154.1:c.2821C>T	XP_011510456.1:p.Pro941Ser
XM_011512155.1:c.2812C>T	XP_011510457.1:p.Pro938Ser
XM_011512156.1:c.2779C>T	XP_011510458.1:p.Pro927Ser
XM_011512157.1:c.2665C>T	XP_011510459.1:p.Pro889Ser
XM_011512158.1:c.2593C>T	XP_011510460.1:p.Pro865Ser
XM_011512159.1:c.2401C>T	XP_011510461.1:p.Pro801Ser
XM_011512160.1:c.1555+3693C>T	XP_011510462.1:n.1555+3693C>T
XM_011512161.1:c.1555+3693C>T	XP_011510463.1:n.1555+3693C>T
XM_011512162.1:c.1369+3693C>T	XP_011510464.1:n.1369+3693C>T
XM_011512163.1:c.1297+3693C>T	XP_011510465.1:n.1297+3693C>T
XM_011512164.1:c.751+3693C>T	XP_011510466.1:n.751+3693C>T
XM_011512165.1:c.721+3693C>T	XP_011510467.1:n.721+3693C>T
XM_011512166.1:c.1516+3693C>T	XP_011510468.1:n.1516+3693C>T
XR_923063.1:n.1605+3693C>T
XM_005246141.4:c.823+3693C>T	XP_005246198.1:n.823+3693C>T
XM_005246142.2:c.751+3693C>T	XP_005246199.1:n.751+3693C>T
XM_017005253.2:c.1522+3693C>T	XP_016860742.1:n.1522+3693C>T
XM_017005254.2:c.1522+3693C>T	XP_016860743.1:n.1522+3693C>T
XM_017005255.2:c.1450+3693C>T	XP_016860744.1:n.1450+3693C>T
XM_017005256.2:c.1336+3693C>T	XP_016860745.1:n.1336+3693C>T
XM_017005257.2:c.1387+3693C>T	XP_016860746.1:n.1387+3693C>T
XM_017005258.2:c.1336+3693C>T	XP_016860747.1:n.1336+3693C>T
XM_017005260.2:c.1162+3693C>T	XP_016860749.1:n.1162+3693C>T
XM_017005261.2:c.1099+3693C>T	XP_016860750.1:n.1099+3693C>T
XM_017005262.2:c.1099+3693C>T	XP_016860751.1:n.1099+3693C>T
XM_017005263.2:c.937+3693C>T	XP_016860752.1:n.937+3693C>T
XR_001739039.2:n.2887C>T
XR_001739040.1:n.3052C>T
XR_001739041.2:n.2848C>T
XR_001739042.2:n.2824C>T
XR_001739043.1:n.2800C>T
XR_001739044.2:n.2815C>T
XR_001739045.2:n.2785C>T
XR_001739046.1:n.3132C>T
XR_001739047.2:n.2701C>T
XR_001739048.1:n.2890C>T
XR_001739049.2:n.2635C>T
XR_001739050.2:n.2596C>T
XR_001739051.2:n.2563C>T
XR_001739052.2:n.2536C>T
XR_001739053.1:n.2525C>T
XR_001739054.1:n.2447C>T
XR_001739055.2:n.2464C>T
XR_001739056.2:n.2449C>T
XR_001739057.1:n.2465C>T
XR_001739058.1:n.2644C>T
XR_001739059.2:n.2377C>T
XR_001739060.1:n.2351C>T
XR_001739061.1:n.2393C>T
XR_001739062.1:n.2570C>T
XR_001739063.1:n.2277C>T
XR_001739064.1:n.2538C>T
XR_001739065.1:n.2482C>T
XR_001739066.1:n.2279C>T
XR_001739067.1:n.2186C>T
XR_001739068.1:n.2207C>T
XR_001739069.1:n.2384C>T
XR_001739070.1:n.2248C>T
XR_001739071.1:n.2106C>T
XR_001739072.1:n.2352C>T
XR_001739073.2:n.1591+3693C>T
XR_002959364.1:n.2278C>T
NM_001137550.2:c.1459+3693C>T MANE Select	NP_001131022.1:n.1459+3693C>T
NM_001137552.2:c.2185C>T	NP_001131024.1:p.Pro729Ser
NM_001137553.2:c.2017C>T	NP_001131025.1:p.Pro673Ser
NM_004735.4:c.2113C>T	NP_004726.2:p.Pro705Ser
NM_001137551.2:c.721+3693C>T	NP_001131023.1:n.721+3693C>T