Canonical Allele Identifier: CA431937056

Gene: LRRFIP1

Linked Data

• gnomAD v4: 2-237763855-T-C
• MyVariant Identifiers: chr2:g.238672498T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763855T>C , CM000664.2:g.237763855T>C	GRCh38
NC_000002.11:g.238672498T>C , CM000664.1:g.238672498T>C	GRCh37
NC_000002.10:g.238337237T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3650T>C
ENST00000698098.1:c.955+3650T>C	ENSP00000513562.1:n.955+3650T>C
ENST00000308482.14:c.1459+3650T>C MANE Select	ENSP00000310109.9:n.1459+3650T>C
ENST00000244815.9:c.2070T>C	ENSP00000244815.5:p.Ser690=
ENST00000289175.10:c.1974T>C	ENSP00000289175.6:p.Ser658=
ENST00000308482.13:c.1459+3650T>C	ENSP00000310109.9:n.1459+3650T>C
ENST00000392000.4:c.2142T>C	ENSP00000375857.4:p.Ser714=
ENST00000483443.1:n.235+3650T>C
NM_001137550.1:c.1459+3650T>C	NP_001131022.1:n.1459+3650T>C
NM_001137551.1:c.721+3650T>C	NP_001131023.1:n.721+3650T>C
NM_001137552.1:c.2142T>C	NP_001131024.1:p.Ser714=
NM_001137553.1:c.1974T>C	NP_001131025.1:p.Ser658=
NM_004735.3:c.2070T>C	NP_004726.2:p.Ser690=
XM_005246112.3:c.2775T>C	XP_005246169.1:p.Ser925=
XM_005246115.3:c.2730T>C	XP_005246172.1:p.Ser910=
XM_005246116.3:c.2712T>C	XP_005246173.1:p.Ser904=
XM_005246118.3:c.2667T>C	XP_005246175.1:p.Ser889=
XM_005246119.3:c.2664T>C	XP_005246176.1:p.Ser888=
XM_005246120.3:c.2628T>C	XP_005246177.1:p.Ser876=
XM_005246121.3:c.2613T>C	XP_005246178.1:p.Ser871=
XM_005246122.3:c.2601T>C	XP_005246179.1:p.Ser867=
XM_005246124.1:c.2583T>C	XP_005246181.1:p.Ser861=
XM_005246125.3:c.2562T>C	XP_005246182.1:p.Ser854=
XM_005246126.3:c.2523T>C	XP_005246183.1:p.Ser841=
XM_005246128.1:c.2490T>C	XP_005246185.1:p.Ser830=
XM_005246129.3:c.2451T>C	XP_005246186.1:p.Ser817=
XM_005246130.3:c.2424T>C	XP_005246187.1:p.Ser808=
XM_005246131.3:c.2337T>C	XP_005246188.1:p.Ser779=
XM_005246132.3:c.2262T>C	XP_005246189.1:p.Ser754=
XM_005246133.1:c.2232T>C	XP_005246190.1:p.Ser744=
XM_005246134.1:c.2190T>C	XP_005246191.1:p.Ser730=
XM_005246135.1:c.2160T>C	XP_005246192.1:p.Ser720=
XM_005246136.1:c.2004T>C	XP_005246193.1:p.Ser668=
XM_005246141.3:c.823+3650T>C	XP_005246198.1:n.823+3650T>C
XM_005246142.1:c.751+3650T>C	XP_005246199.1:n.751+3650T>C
XM_006712842.2:c.2673T>C	XP_006712905.1:p.Ser891=
XM_006712843.2:c.2568T>C	XP_006712906.1:p.Ser856=
XM_006712844.1:c.2502T>C	XP_006712907.1:p.Ser834=
XM_006712845.2:c.2484T>C	XP_006712908.1:p.Ser828=
XM_006712846.1:c.2388T>C	XP_006712909.1:p.Ser796=
XM_006712847.1:c.2328T>C	XP_006712910.1:p.Ser776=
XM_006712848.1:c.2256T>C	XP_006712911.1:p.Ser752=
XM_011512152.1:c.2808T>C	XP_011510454.1:p.Ser936=
XM_011512153.1:c.2790T>C	XP_011510455.1:p.Ser930=
XM_011512154.1:c.2778T>C	XP_011510456.1:p.Ser926=
XM_011512155.1:c.2769T>C	XP_011510457.1:p.Ser923=
XM_011512156.1:c.2736T>C	XP_011510458.1:p.Ser912=
XM_011512157.1:c.2622T>C	XP_011510459.1:p.Ser874=
XM_011512158.1:c.2550T>C	XP_011510460.1:p.Ser850=
XM_011512159.1:c.2358T>C	XP_011510461.1:p.Ser786=
XM_011512160.1:c.1555+3650T>C	XP_011510462.1:n.1555+3650T>C
XM_011512161.1:c.1555+3650T>C	XP_011510463.1:n.1555+3650T>C
XM_011512162.1:c.1369+3650T>C	XP_011510464.1:n.1369+3650T>C
XM_011512163.1:c.1297+3650T>C	XP_011510465.1:n.1297+3650T>C
XM_011512164.1:c.751+3650T>C	XP_011510466.1:n.751+3650T>C
XM_011512165.1:c.721+3650T>C	XP_011510467.1:n.721+3650T>C
XM_011512166.1:c.1516+3650T>C	XP_011510468.1:n.1516+3650T>C
XR_923063.1:n.1605+3650T>C
XM_005246141.4:c.823+3650T>C	XP_005246198.1:n.823+3650T>C
XM_005246142.2:c.751+3650T>C	XP_005246199.1:n.751+3650T>C
XM_017005253.2:c.1522+3650T>C	XP_016860742.1:n.1522+3650T>C
XM_017005254.2:c.1522+3650T>C	XP_016860743.1:n.1522+3650T>C
XM_017005255.2:c.1450+3650T>C	XP_016860744.1:n.1450+3650T>C
XM_017005256.2:c.1336+3650T>C	XP_016860745.1:n.1336+3650T>C
XM_017005257.2:c.1387+3650T>C	XP_016860746.1:n.1387+3650T>C
XM_017005258.2:c.1336+3650T>C	XP_016860747.1:n.1336+3650T>C
XM_017005260.2:c.1162+3650T>C	XP_016860749.1:n.1162+3650T>C
XM_017005261.2:c.1099+3650T>C	XP_016860750.1:n.1099+3650T>C
XM_017005262.2:c.1099+3650T>C	XP_016860751.1:n.1099+3650T>C
XM_017005263.2:c.937+3650T>C	XP_016860752.1:n.937+3650T>C
XR_001739039.2:n.2844T>C
XR_001739040.1:n.3009T>C
XR_001739041.2:n.2805T>C
XR_001739042.2:n.2781T>C
XR_001739043.1:n.2757T>C
XR_001739044.2:n.2772T>C
XR_001739045.2:n.2742T>C
XR_001739046.1:n.3089T>C
XR_001739047.2:n.2658T>C
XR_001739048.1:n.2847T>C
XR_001739049.2:n.2592T>C
XR_001739050.2:n.2553T>C
XR_001739051.2:n.2520T>C
XR_001739052.2:n.2493T>C
XR_001739053.1:n.2482T>C
XR_001739054.1:n.2404T>C
XR_001739055.2:n.2421T>C
XR_001739056.2:n.2406T>C
XR_001739057.1:n.2422T>C
XR_001739058.1:n.2601T>C
XR_001739059.2:n.2334T>C
XR_001739060.1:n.2308T>C
XR_001739061.1:n.2350T>C
XR_001739062.1:n.2527T>C
XR_001739063.1:n.2234T>C
XR_001739064.1:n.2495T>C
XR_001739065.1:n.2439T>C
XR_001739066.1:n.2236T>C
XR_001739067.1:n.2143T>C
XR_001739068.1:n.2164T>C
XR_001739069.1:n.2341T>C
XR_001739070.1:n.2205T>C
XR_001739071.1:n.2063T>C
XR_001739072.1:n.2309T>C
XR_001739073.2:n.1591+3650T>C
XR_002959364.1:n.2235T>C
NM_001137550.2:c.1459+3650T>C MANE Select	NP_001131022.1:n.1459+3650T>C
NM_001137552.2:c.2142T>C	NP_001131024.1:p.Ser714=
NM_001137553.2:c.1974T>C	NP_001131025.1:p.Ser658=
NM_004735.4:c.2070T>C	NP_004726.2:p.Ser690=
NM_001137551.2:c.721+3650T>C	NP_001131023.1:n.721+3650T>C