Canonical Allele Identifier: CA351204424

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672515G>C (hg19) ; chr2:g.237763872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763872G>C , CM000664.2:g.237763872G>C	GRCh38
NC_000002.11:g.238672515G>C , CM000664.1:g.238672515G>C	GRCh37
NC_000002.10:g.238337254G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3667G>C
ENST00000698098.1:c.955+3667G>C	ENSP00000513562.1:n.955+3667G>C
ENST00000308482.14:c.1459+3667G>C MANE Select	ENSP00000310109.9:n.1459+3667G>C
ENST00000244815.9:c.2087G>C	ENSP00000244815.5:p.Ser696Thr
ENST00000289175.10:c.1991G>C	ENSP00000289175.6:p.Ser664Thr
ENST00000308482.13:c.1459+3667G>C	ENSP00000310109.9:n.1459+3667G>C
ENST00000392000.4:c.2159G>C	ENSP00000375857.4:p.Ser720Thr
ENST00000483443.1:n.235+3667G>C
NM_001137550.1:c.1459+3667G>C	NP_001131022.1:n.1459+3667G>C
NM_001137551.1:c.721+3667G>C	NP_001131023.1:n.721+3667G>C
NM_001137552.1:c.2159G>C	NP_001131024.1:p.Ser720Thr
NM_001137553.1:c.1991G>C	NP_001131025.1:p.Ser664Thr
NM_004735.3:c.2087G>C	NP_004726.2:p.Ser696Thr
XM_005246112.3:c.2792G>C	XP_005246169.1:p.Ser931Thr
XM_005246115.3:c.2747G>C	XP_005246172.1:p.Ser916Thr
XM_005246116.3:c.2729G>C	XP_005246173.1:p.Ser910Thr
XM_005246118.3:c.2684G>C	XP_005246175.1:p.Ser895Thr
XM_005246119.3:c.2681G>C	XP_005246176.1:p.Ser894Thr
XM_005246120.3:c.2645G>C	XP_005246177.1:p.Ser882Thr
XM_005246121.3:c.2630G>C	XP_005246178.1:p.Ser877Thr
XM_005246122.3:c.2618G>C	XP_005246179.1:p.Ser873Thr
XM_005246124.1:c.2600G>C	XP_005246181.1:p.Ser867Thr
XM_005246125.3:c.2579G>C	XP_005246182.1:p.Ser860Thr
XM_005246126.3:c.2540G>C	XP_005246183.1:p.Ser847Thr
XM_005246128.1:c.2507G>C	XP_005246185.1:p.Ser836Thr
XM_005246129.3:c.2468G>C	XP_005246186.1:p.Ser823Thr
XM_005246130.3:c.2441G>C	XP_005246187.1:p.Ser814Thr
XM_005246131.3:c.2354G>C	XP_005246188.1:p.Ser785Thr
XM_005246132.3:c.2279G>C	XP_005246189.1:p.Ser760Thr
XM_005246133.1:c.2249G>C	XP_005246190.1:p.Ser750Thr
XM_005246134.1:c.2207G>C	XP_005246191.1:p.Ser736Thr
XM_005246135.1:c.2177G>C	XP_005246192.1:p.Ser726Thr
XM_005246136.1:c.2021G>C	XP_005246193.1:p.Ser674Thr
XM_005246141.3:c.823+3667G>C	XP_005246198.1:n.823+3667G>C
XM_005246142.1:c.751+3667G>C	XP_005246199.1:n.751+3667G>C
XM_006712842.2:c.2690G>C	XP_006712905.1:p.Ser897Thr
XM_006712843.2:c.2585G>C	XP_006712906.1:p.Ser862Thr
XM_006712844.1:c.2519G>C	XP_006712907.1:p.Ser840Thr
XM_006712845.2:c.2501G>C	XP_006712908.1:p.Ser834Thr
XM_006712846.1:c.2405G>C	XP_006712909.1:p.Ser802Thr
XM_006712847.1:c.2345G>C	XP_006712910.1:p.Ser782Thr
XM_006712848.1:c.2273G>C	XP_006712911.1:p.Ser758Thr
XM_011512152.1:c.2825G>C	XP_011510454.1:p.Ser942Thr
XM_011512153.1:c.2807G>C	XP_011510455.1:p.Ser936Thr
XM_011512154.1:c.2795G>C	XP_011510456.1:p.Ser932Thr
XM_011512155.1:c.2786G>C	XP_011510457.1:p.Ser929Thr
XM_011512156.1:c.2753G>C	XP_011510458.1:p.Ser918Thr
XM_011512157.1:c.2639G>C	XP_011510459.1:p.Ser880Thr
XM_011512158.1:c.2567G>C	XP_011510460.1:p.Ser856Thr
XM_011512159.1:c.2375G>C	XP_011510461.1:p.Ser792Thr
XM_011512160.1:c.1555+3667G>C	XP_011510462.1:n.1555+3667G>C
XM_011512161.1:c.1555+3667G>C	XP_011510463.1:n.1555+3667G>C
XM_011512162.1:c.1369+3667G>C	XP_011510464.1:n.1369+3667G>C
XM_011512163.1:c.1297+3667G>C	XP_011510465.1:n.1297+3667G>C
XM_011512164.1:c.751+3667G>C	XP_011510466.1:n.751+3667G>C
XM_011512165.1:c.721+3667G>C	XP_011510467.1:n.721+3667G>C
XM_011512166.1:c.1516+3667G>C	XP_011510468.1:n.1516+3667G>C
XR_923063.1:n.1605+3667G>C
XM_005246141.4:c.823+3667G>C	XP_005246198.1:n.823+3667G>C
XM_005246142.2:c.751+3667G>C	XP_005246199.1:n.751+3667G>C
XM_017005253.2:c.1522+3667G>C	XP_016860742.1:n.1522+3667G>C
XM_017005254.2:c.1522+3667G>C	XP_016860743.1:n.1522+3667G>C
XM_017005255.2:c.1450+3667G>C	XP_016860744.1:n.1450+3667G>C
XM_017005256.2:c.1336+3667G>C	XP_016860745.1:n.1336+3667G>C
XM_017005257.2:c.1387+3667G>C	XP_016860746.1:n.1387+3667G>C
XM_017005258.2:c.1336+3667G>C	XP_016860747.1:n.1336+3667G>C
XM_017005260.2:c.1162+3667G>C	XP_016860749.1:n.1162+3667G>C
XM_017005261.2:c.1099+3667G>C	XP_016860750.1:n.1099+3667G>C
XM_017005262.2:c.1099+3667G>C	XP_016860751.1:n.1099+3667G>C
XM_017005263.2:c.937+3667G>C	XP_016860752.1:n.937+3667G>C
XR_001739039.2:n.2861G>C
XR_001739040.1:n.3026G>C
XR_001739041.2:n.2822G>C
XR_001739042.2:n.2798G>C
XR_001739043.1:n.2774G>C
XR_001739044.2:n.2789G>C
XR_001739045.2:n.2759G>C
XR_001739046.1:n.3106G>C
XR_001739047.2:n.2675G>C
XR_001739048.1:n.2864G>C
XR_001739049.2:n.2609G>C
XR_001739050.2:n.2570G>C
XR_001739051.2:n.2537G>C
XR_001739052.2:n.2510G>C
XR_001739053.1:n.2499G>C
XR_001739054.1:n.2421G>C
XR_001739055.2:n.2438G>C
XR_001739056.2:n.2423G>C
XR_001739057.1:n.2439G>C
XR_001739058.1:n.2618G>C
XR_001739059.2:n.2351G>C
XR_001739060.1:n.2325G>C
XR_001739061.1:n.2367G>C
XR_001739062.1:n.2544G>C
XR_001739063.1:n.2251G>C
XR_001739064.1:n.2512G>C
XR_001739065.1:n.2456G>C
XR_001739066.1:n.2253G>C
XR_001739067.1:n.2160G>C
XR_001739068.1:n.2181G>C
XR_001739069.1:n.2358G>C
XR_001739070.1:n.2222G>C
XR_001739071.1:n.2080G>C
XR_001739072.1:n.2326G>C
XR_001739073.2:n.1591+3667G>C
XR_002959364.1:n.2252G>C
NM_001137550.2:c.1459+3667G>C MANE Select	NP_001131022.1:n.1459+3667G>C
NM_001137552.2:c.2159G>C	NP_001131024.1:p.Ser720Thr
NM_001137553.2:c.1991G>C	NP_001131025.1:p.Ser664Thr
NM_004735.4:c.2087G>C	NP_004726.2:p.Ser696Thr
NM_001137551.2:c.721+3667G>C	NP_001131023.1:n.721+3667G>C