Canonical Allele Identifier: CA351204632

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672549T>A (hg19) ; chr2:g.237763906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763906T>A , CM000664.2:g.237763906T>A	GRCh38
NC_000002.11:g.238672549T>A , CM000664.1:g.238672549T>A	GRCh37
NC_000002.10:g.238337288T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3701T>A
ENST00000698098.1:c.955+3701T>A	ENSP00000513562.1:n.955+3701T>A
ENST00000308482.14:c.1459+3701T>A MANE Select	ENSP00000310109.9:n.1459+3701T>A
ENST00000244815.9:c.2121T>A	ENSP00000244815.5:p.His707Gln
ENST00000289175.10:c.2025T>A	ENSP00000289175.6:p.His675Gln
ENST00000308482.13:c.1459+3701T>A	ENSP00000310109.9:n.1459+3701T>A
ENST00000392000.4:c.2193T>A	ENSP00000375857.4:p.His731Gln
ENST00000483443.1:n.235+3701T>A
NM_001137550.1:c.1459+3701T>A	NP_001131022.1:n.1459+3701T>A
NM_001137551.1:c.721+3701T>A	NP_001131023.1:n.721+3701T>A
NM_001137552.1:c.2193T>A	NP_001131024.1:p.His731Gln
NM_001137553.1:c.2025T>A	NP_001131025.1:p.His675Gln
NM_004735.3:c.2121T>A	NP_004726.2:p.His707Gln
XM_005246112.3:c.2826T>A	XP_005246169.1:p.His942Gln
XM_005246115.3:c.2781T>A	XP_005246172.1:p.His927Gln
XM_005246116.3:c.2763T>A	XP_005246173.1:p.His921Gln
XM_005246118.3:c.2718T>A	XP_005246175.1:p.His906Gln
XM_005246119.3:c.2715T>A	XP_005246176.1:p.His905Gln
XM_005246120.3:c.2679T>A	XP_005246177.1:p.His893Gln
XM_005246121.3:c.2664T>A	XP_005246178.1:p.His888Gln
XM_005246122.3:c.2652T>A	XP_005246179.1:p.His884Gln
XM_005246124.1:c.2634T>A	XP_005246181.1:p.His878Gln
XM_005246125.3:c.2613T>A	XP_005246182.1:p.His871Gln
XM_005246126.3:c.2574T>A	XP_005246183.1:p.His858Gln
XM_005246128.1:c.2541T>A	XP_005246185.1:p.His847Gln
XM_005246129.3:c.2502T>A	XP_005246186.1:p.His834Gln
XM_005246130.3:c.2475T>A	XP_005246187.1:p.His825Gln
XM_005246131.3:c.2388T>A	XP_005246188.1:p.His796Gln
XM_005246132.3:c.2313T>A	XP_005246189.1:p.His771Gln
XM_005246133.1:c.2283T>A	XP_005246190.1:p.His761Gln
XM_005246134.1:c.2241T>A	XP_005246191.1:p.His747Gln
XM_005246135.1:c.2211T>A	XP_005246192.1:p.His737Gln
XM_005246136.1:c.2055T>A	XP_005246193.1:p.His685Gln
XM_005246141.3:c.823+3701T>A	XP_005246198.1:n.823+3701T>A
XM_005246142.1:c.751+3701T>A	XP_005246199.1:n.751+3701T>A
XM_006712842.2:c.2724T>A	XP_006712905.1:p.His908Gln
XM_006712843.2:c.2619T>A	XP_006712906.1:p.His873Gln
XM_006712844.1:c.2553T>A	XP_006712907.1:p.His851Gln
XM_006712845.2:c.2535T>A	XP_006712908.1:p.His845Gln
XM_006712846.1:c.2439T>A	XP_006712909.1:p.His813Gln
XM_006712847.1:c.2379T>A	XP_006712910.1:p.His793Gln
XM_006712848.1:c.2307T>A	XP_006712911.1:p.His769Gln
XM_011512152.1:c.2859T>A	XP_011510454.1:p.His953Gln
XM_011512153.1:c.2841T>A	XP_011510455.1:p.His947Gln
XM_011512154.1:c.2829T>A	XP_011510456.1:p.His943Gln
XM_011512155.1:c.2820T>A	XP_011510457.1:p.His940Gln
XM_011512156.1:c.2787T>A	XP_011510458.1:p.His929Gln
XM_011512157.1:c.2673T>A	XP_011510459.1:p.His891Gln
XM_011512158.1:c.2601T>A	XP_011510460.1:p.His867Gln
XM_011512159.1:c.2409T>A	XP_011510461.1:p.His803Gln
XM_011512160.1:c.1555+3701T>A	XP_011510462.1:n.1555+3701T>A
XM_011512161.1:c.1555+3701T>A	XP_011510463.1:n.1555+3701T>A
XM_011512162.1:c.1369+3701T>A	XP_011510464.1:n.1369+3701T>A
XM_011512163.1:c.1297+3701T>A	XP_011510465.1:n.1297+3701T>A
XM_011512164.1:c.751+3701T>A	XP_011510466.1:n.751+3701T>A
XM_011512165.1:c.721+3701T>A	XP_011510467.1:n.721+3701T>A
XM_011512166.1:c.1516+3701T>A	XP_011510468.1:n.1516+3701T>A
XR_923063.1:n.1605+3701T>A
XM_005246141.4:c.823+3701T>A	XP_005246198.1:n.823+3701T>A
XM_005246142.2:c.751+3701T>A	XP_005246199.1:n.751+3701T>A
XM_017005253.2:c.1522+3701T>A	XP_016860742.1:n.1522+3701T>A
XM_017005254.2:c.1522+3701T>A	XP_016860743.1:n.1522+3701T>A
XM_017005255.2:c.1450+3701T>A	XP_016860744.1:n.1450+3701T>A
XM_017005256.2:c.1336+3701T>A	XP_016860745.1:n.1336+3701T>A
XM_017005257.2:c.1387+3701T>A	XP_016860746.1:n.1387+3701T>A
XM_017005258.2:c.1336+3701T>A	XP_016860747.1:n.1336+3701T>A
XM_017005260.2:c.1162+3701T>A	XP_016860749.1:n.1162+3701T>A
XM_017005261.2:c.1099+3701T>A	XP_016860750.1:n.1099+3701T>A
XM_017005262.2:c.1099+3701T>A	XP_016860751.1:n.1099+3701T>A
XM_017005263.2:c.937+3701T>A	XP_016860752.1:n.937+3701T>A
XR_001739039.2:n.2895T>A
XR_001739040.1:n.3060T>A
XR_001739041.2:n.2856T>A
XR_001739042.2:n.2832T>A
XR_001739043.1:n.2808T>A
XR_001739044.2:n.2823T>A
XR_001739045.2:n.2793T>A
XR_001739046.1:n.3140T>A
XR_001739047.2:n.2709T>A
XR_001739048.1:n.2898T>A
XR_001739049.2:n.2643T>A
XR_001739050.2:n.2604T>A
XR_001739051.2:n.2571T>A
XR_001739052.2:n.2544T>A
XR_001739053.1:n.2533T>A
XR_001739054.1:n.2455T>A
XR_001739055.2:n.2472T>A
XR_001739056.2:n.2457T>A
XR_001739057.1:n.2473T>A
XR_001739058.1:n.2652T>A
XR_001739059.2:n.2385T>A
XR_001739060.1:n.2359T>A
XR_001739061.1:n.2401T>A
XR_001739062.1:n.2578T>A
XR_001739063.1:n.2285T>A
XR_001739064.1:n.2546T>A
XR_001739065.1:n.2490T>A
XR_001739066.1:n.2287T>A
XR_001739067.1:n.2194T>A
XR_001739068.1:n.2215T>A
XR_001739069.1:n.2392T>A
XR_001739070.1:n.2256T>A
XR_001739071.1:n.2114T>A
XR_001739072.1:n.2360T>A
XR_001739073.2:n.1591+3701T>A
XR_002959364.1:n.2286T>A
NM_001137550.2:c.1459+3701T>A MANE Select	NP_001131022.1:n.1459+3701T>A
NM_001137552.2:c.2193T>A	NP_001131024.1:p.His731Gln
NM_001137553.2:c.2025T>A	NP_001131025.1:p.His675Gln
NM_004735.4:c.2121T>A	NP_004726.2:p.His707Gln
NM_001137551.2:c.721+3701T>A	NP_001131023.1:n.721+3701T>A