Canonical Allele Identifier: CA351204108

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672472A>T (hg19) ; chr2:g.237763829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763829A>T , CM000664.2:g.237763829A>T	GRCh38
NC_000002.11:g.238672472A>T , CM000664.1:g.238672472A>T	GRCh37
NC_000002.10:g.238337211A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3624A>T
ENST00000698098.1:c.955+3624A>T	ENSP00000513562.1:n.955+3624A>T
ENST00000308482.14:c.1459+3624A>T MANE Select	ENSP00000310109.9:n.1459+3624A>T
ENST00000244815.9:c.2044A>T	ENSP00000244815.5:p.Lys682Ter
ENST00000289175.10:c.1948A>T	ENSP00000289175.6:p.Lys650Ter
ENST00000308482.13:c.1459+3624A>T	ENSP00000310109.9:n.1459+3624A>T
ENST00000392000.4:c.2116A>T	ENSP00000375857.4:p.Lys706Ter
ENST00000483443.1:n.235+3624A>T
NM_001137550.1:c.1459+3624A>T	NP_001131022.1:n.1459+3624A>T
NM_001137551.1:c.721+3624A>T	NP_001131023.1:n.721+3624A>T
NM_001137552.1:c.2116A>T	NP_001131024.1:p.Lys706Ter
NM_001137553.1:c.1948A>T	NP_001131025.1:p.Lys650Ter
NM_004735.3:c.2044A>T	NP_004726.2:p.Lys682Ter
XM_005246112.3:c.2749A>T	XP_005246169.1:p.Lys917Ter
XM_005246115.3:c.2704A>T	XP_005246172.1:p.Lys902Ter
XM_005246116.3:c.2686A>T	XP_005246173.1:p.Lys896Ter
XM_005246118.3:c.2641A>T	XP_005246175.1:p.Lys881Ter
XM_005246119.3:c.2638A>T	XP_005246176.1:p.Lys880Ter
XM_005246120.3:c.2602A>T	XP_005246177.1:p.Lys868Ter
XM_005246121.3:c.2587A>T	XP_005246178.1:p.Lys863Ter
XM_005246122.3:c.2575A>T	XP_005246179.1:p.Lys859Ter
XM_005246124.1:c.2557A>T	XP_005246181.1:p.Lys853Ter
XM_005246125.3:c.2536A>T	XP_005246182.1:p.Lys846Ter
XM_005246126.3:c.2497A>T	XP_005246183.1:p.Lys833Ter
XM_005246128.1:c.2464A>T	XP_005246185.1:p.Lys822Ter
XM_005246129.3:c.2425A>T	XP_005246186.1:p.Lys809Ter
XM_005246130.3:c.2398A>T	XP_005246187.1:p.Lys800Ter
XM_005246131.3:c.2311A>T	XP_005246188.1:p.Lys771Ter
XM_005246132.3:c.2236A>T	XP_005246189.1:p.Lys746Ter
XM_005246133.1:c.2206A>T	XP_005246190.1:p.Lys736Ter
XM_005246134.1:c.2164A>T	XP_005246191.1:p.Lys722Ter
XM_005246135.1:c.2134A>T	XP_005246192.1:p.Lys712Ter
XM_005246136.1:c.1978A>T	XP_005246193.1:p.Lys660Ter
XM_005246141.3:c.823+3624A>T	XP_005246198.1:n.823+3624A>T
XM_005246142.1:c.751+3624A>T	XP_005246199.1:n.751+3624A>T
XM_006712842.2:c.2647A>T	XP_006712905.1:p.Lys883Ter
XM_006712843.2:c.2542A>T	XP_006712906.1:p.Lys848Ter
XM_006712844.1:c.2476A>T	XP_006712907.1:p.Lys826Ter
XM_006712845.2:c.2458A>T	XP_006712908.1:p.Lys820Ter
XM_006712846.1:c.2362A>T	XP_006712909.1:p.Lys788Ter
XM_006712847.1:c.2302A>T	XP_006712910.1:p.Lys768Ter
XM_006712848.1:c.2230A>T	XP_006712911.1:p.Lys744Ter
XM_011512152.1:c.2782A>T	XP_011510454.1:p.Lys928Ter
XM_011512153.1:c.2764A>T	XP_011510455.1:p.Lys922Ter
XM_011512154.1:c.2752A>T	XP_011510456.1:p.Lys918Ter
XM_011512155.1:c.2743A>T	XP_011510457.1:p.Lys915Ter
XM_011512156.1:c.2710A>T	XP_011510458.1:p.Lys904Ter
XM_011512157.1:c.2596A>T	XP_011510459.1:p.Lys866Ter
XM_011512158.1:c.2524A>T	XP_011510460.1:p.Lys842Ter
XM_011512159.1:c.2332A>T	XP_011510461.1:p.Lys778Ter
XM_011512160.1:c.1555+3624A>T	XP_011510462.1:n.1555+3624A>T
XM_011512161.1:c.1555+3624A>T	XP_011510463.1:n.1555+3624A>T
XM_011512162.1:c.1369+3624A>T	XP_011510464.1:n.1369+3624A>T
XM_011512163.1:c.1297+3624A>T	XP_011510465.1:n.1297+3624A>T
XM_011512164.1:c.751+3624A>T	XP_011510466.1:n.751+3624A>T
XM_011512165.1:c.721+3624A>T	XP_011510467.1:n.721+3624A>T
XM_011512166.1:c.1516+3624A>T	XP_011510468.1:n.1516+3624A>T
XR_923063.1:n.1605+3624A>T
XM_005246141.4:c.823+3624A>T	XP_005246198.1:n.823+3624A>T
XM_005246142.2:c.751+3624A>T	XP_005246199.1:n.751+3624A>T
XM_017005253.2:c.1522+3624A>T	XP_016860742.1:n.1522+3624A>T
XM_017005254.2:c.1522+3624A>T	XP_016860743.1:n.1522+3624A>T
XM_017005255.2:c.1450+3624A>T	XP_016860744.1:n.1450+3624A>T
XM_017005256.2:c.1336+3624A>T	XP_016860745.1:n.1336+3624A>T
XM_017005257.2:c.1387+3624A>T	XP_016860746.1:n.1387+3624A>T
XM_017005258.2:c.1336+3624A>T	XP_016860747.1:n.1336+3624A>T
XM_017005260.2:c.1162+3624A>T	XP_016860749.1:n.1162+3624A>T
XM_017005261.2:c.1099+3624A>T	XP_016860750.1:n.1099+3624A>T
XM_017005262.2:c.1099+3624A>T	XP_016860751.1:n.1099+3624A>T
XM_017005263.2:c.937+3624A>T	XP_016860752.1:n.937+3624A>T
XR_001739039.2:n.2818A>T
XR_001739040.1:n.2983A>T
XR_001739041.2:n.2779A>T
XR_001739042.2:n.2755A>T
XR_001739043.1:n.2731A>T
XR_001739044.2:n.2746A>T
XR_001739045.2:n.2716A>T
XR_001739046.1:n.3063A>T
XR_001739047.2:n.2632A>T
XR_001739048.1:n.2821A>T
XR_001739049.2:n.2566A>T
XR_001739050.2:n.2527A>T
XR_001739051.2:n.2494A>T
XR_001739052.2:n.2467A>T
XR_001739053.1:n.2456A>T
XR_001739054.1:n.2378A>T
XR_001739055.2:n.2395A>T
XR_001739056.2:n.2380A>T
XR_001739057.1:n.2396A>T
XR_001739058.1:n.2575A>T
XR_001739059.2:n.2308A>T
XR_001739060.1:n.2282A>T
XR_001739061.1:n.2324A>T
XR_001739062.1:n.2501A>T
XR_001739063.1:n.2208A>T
XR_001739064.1:n.2469A>T
XR_001739065.1:n.2413A>T
XR_001739066.1:n.2210A>T
XR_001739067.1:n.2117A>T
XR_001739068.1:n.2138A>T
XR_001739069.1:n.2315A>T
XR_001739070.1:n.2179A>T
XR_001739071.1:n.2037A>T
XR_001739072.1:n.2283A>T
XR_001739073.2:n.1591+3624A>T
XR_002959364.1:n.2209A>T
NM_001137550.2:c.1459+3624A>T MANE Select	NP_001131022.1:n.1459+3624A>T
NM_001137552.2:c.2116A>T	NP_001131024.1:p.Lys706Ter
NM_001137553.2:c.1948A>T	NP_001131025.1:p.Lys650Ter
NM_004735.4:c.2044A>T	NP_004726.2:p.Lys682Ter
NM_001137551.2:c.721+3624A>T	NP_001131023.1:n.721+3624A>T