Canonical Allele Identifier: CA351204667

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672557C>A (hg19) ; chr2:g.237763914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763914C>A , CM000664.2:g.237763914C>A	GRCh38
NC_000002.11:g.238672557C>A , CM000664.1:g.238672557C>A	GRCh37
NC_000002.10:g.238337296C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3709C>A
ENST00000698098.1:c.955+3709C>A	ENSP00000513562.1:n.955+3709C>A
ENST00000308482.14:c.1459+3709C>A MANE Select	ENSP00000310109.9:n.1459+3709C>A
ENST00000244815.9:c.2129C>A	ENSP00000244815.5:p.Pro710His
ENST00000289175.10:c.2033C>A	ENSP00000289175.6:p.Pro678His
ENST00000308482.13:c.1459+3709C>A	ENSP00000310109.9:n.1459+3709C>A
ENST00000392000.4:c.2201C>A	ENSP00000375857.4:p.Pro734His
ENST00000483443.1:n.235+3709C>A
NM_001137550.1:c.1459+3709C>A	NP_001131022.1:n.1459+3709C>A
NM_001137551.1:c.721+3709C>A	NP_001131023.1:n.721+3709C>A
NM_001137552.1:c.2201C>A	NP_001131024.1:p.Pro734His
NM_001137553.1:c.2033C>A	NP_001131025.1:p.Pro678His
NM_004735.3:c.2129C>A	NP_004726.2:p.Pro710His
XM_005246112.3:c.2834C>A	XP_005246169.1:p.Pro945His
XM_005246115.3:c.2789C>A	XP_005246172.1:p.Pro930His
XM_005246116.3:c.2771C>A	XP_005246173.1:p.Pro924His
XM_005246118.3:c.2726C>A	XP_005246175.1:p.Pro909His
XM_005246119.3:c.2723C>A	XP_005246176.1:p.Pro908His
XM_005246120.3:c.2687C>A	XP_005246177.1:p.Pro896His
XM_005246121.3:c.2672C>A	XP_005246178.1:p.Pro891His
XM_005246122.3:c.2660C>A	XP_005246179.1:p.Pro887His
XM_005246124.1:c.2642C>A	XP_005246181.1:p.Pro881His
XM_005246125.3:c.2621C>A	XP_005246182.1:p.Pro874His
XM_005246126.3:c.2582C>A	XP_005246183.1:p.Pro861His
XM_005246128.1:c.2549C>A	XP_005246185.1:p.Pro850His
XM_005246129.3:c.2510C>A	XP_005246186.1:p.Pro837His
XM_005246130.3:c.2483C>A	XP_005246187.1:p.Pro828His
XM_005246131.3:c.2396C>A	XP_005246188.1:p.Pro799His
XM_005246132.3:c.2321C>A	XP_005246189.1:p.Pro774His
XM_005246133.1:c.2291C>A	XP_005246190.1:p.Pro764His
XM_005246134.1:c.2249C>A	XP_005246191.1:p.Pro750His
XM_005246135.1:c.2219C>A	XP_005246192.1:p.Pro740His
XM_005246136.1:c.2063C>A	XP_005246193.1:p.Pro688His
XM_005246141.3:c.823+3709C>A	XP_005246198.1:n.823+3709C>A
XM_005246142.1:c.751+3709C>A	XP_005246199.1:n.751+3709C>A
XM_006712842.2:c.2732C>A	XP_006712905.1:p.Pro911His
XM_006712843.2:c.2627C>A	XP_006712906.1:p.Pro876His
XM_006712844.1:c.2561C>A	XP_006712907.1:p.Pro854His
XM_006712845.2:c.2543C>A	XP_006712908.1:p.Pro848His
XM_006712846.1:c.2447C>A	XP_006712909.1:p.Pro816His
XM_006712847.1:c.2387C>A	XP_006712910.1:p.Pro796His
XM_006712848.1:c.2315C>A	XP_006712911.1:p.Pro772His
XM_011512152.1:c.2867C>A	XP_011510454.1:p.Pro956His
XM_011512153.1:c.2849C>A	XP_011510455.1:p.Pro950His
XM_011512154.1:c.2837C>A	XP_011510456.1:p.Pro946His
XM_011512155.1:c.2828C>A	XP_011510457.1:p.Pro943His
XM_011512156.1:c.2795C>A	XP_011510458.1:p.Pro932His
XM_011512157.1:c.2681C>A	XP_011510459.1:p.Pro894His
XM_011512158.1:c.2609C>A	XP_011510460.1:p.Pro870His
XM_011512159.1:c.2417C>A	XP_011510461.1:p.Pro806His
XM_011512160.1:c.1555+3709C>A	XP_011510462.1:n.1555+3709C>A
XM_011512161.1:c.1555+3709C>A	XP_011510463.1:n.1555+3709C>A
XM_011512162.1:c.1369+3709C>A	XP_011510464.1:n.1369+3709C>A
XM_011512163.1:c.1297+3709C>A	XP_011510465.1:n.1297+3709C>A
XM_011512164.1:c.751+3709C>A	XP_011510466.1:n.751+3709C>A
XM_011512165.1:c.721+3709C>A	XP_011510467.1:n.721+3709C>A
XM_011512166.1:c.1516+3709C>A	XP_011510468.1:n.1516+3709C>A
XR_923063.1:n.1605+3709C>A
XM_005246141.4:c.823+3709C>A	XP_005246198.1:n.823+3709C>A
XM_005246142.2:c.751+3709C>A	XP_005246199.1:n.751+3709C>A
XM_017005253.2:c.1522+3709C>A	XP_016860742.1:n.1522+3709C>A
XM_017005254.2:c.1522+3709C>A	XP_016860743.1:n.1522+3709C>A
XM_017005255.2:c.1450+3709C>A	XP_016860744.1:n.1450+3709C>A
XM_017005256.2:c.1336+3709C>A	XP_016860745.1:n.1336+3709C>A
XM_017005257.2:c.1387+3709C>A	XP_016860746.1:n.1387+3709C>A
XM_017005258.2:c.1336+3709C>A	XP_016860747.1:n.1336+3709C>A
XM_017005260.2:c.1162+3709C>A	XP_016860749.1:n.1162+3709C>A
XM_017005261.2:c.1099+3709C>A	XP_016860750.1:n.1099+3709C>A
XM_017005262.2:c.1099+3709C>A	XP_016860751.1:n.1099+3709C>A
XM_017005263.2:c.937+3709C>A	XP_016860752.1:n.937+3709C>A
XR_001739039.2:n.2903C>A
XR_001739040.1:n.3068C>A
XR_001739041.2:n.2864C>A
XR_001739042.2:n.2840C>A
XR_001739043.1:n.2816C>A
XR_001739044.2:n.2831C>A
XR_001739045.2:n.2801C>A
XR_001739046.1:n.3148C>A
XR_001739047.2:n.2717C>A
XR_001739048.1:n.2906C>A
XR_001739049.2:n.2651C>A
XR_001739050.2:n.2612C>A
XR_001739051.2:n.2579C>A
XR_001739052.2:n.2552C>A
XR_001739053.1:n.2541C>A
XR_001739054.1:n.2463C>A
XR_001739055.2:n.2480C>A
XR_001739056.2:n.2465C>A
XR_001739057.1:n.2481C>A
XR_001739058.1:n.2660C>A
XR_001739059.2:n.2393C>A
XR_001739060.1:n.2367C>A
XR_001739061.1:n.2409C>A
XR_001739062.1:n.2586C>A
XR_001739063.1:n.2293C>A
XR_001739064.1:n.2554C>A
XR_001739065.1:n.2498C>A
XR_001739066.1:n.2295C>A
XR_001739067.1:n.2202C>A
XR_001739068.1:n.2223C>A
XR_001739069.1:n.2400C>A
XR_001739070.1:n.2264C>A
XR_001739071.1:n.2122C>A
XR_001739072.1:n.2368C>A
XR_001739073.2:n.1591+3709C>A
XR_002959364.1:n.2294C>A
NM_001137550.2:c.1459+3709C>A MANE Select	NP_001131022.1:n.1459+3709C>A
NM_001137552.2:c.2201C>A	NP_001131024.1:p.Pro734His
NM_001137553.2:c.2033C>A	NP_001131025.1:p.Pro678His
NM_004735.4:c.2129C>A	NP_004726.2:p.Pro710His
NM_001137551.2:c.721+3709C>A	NP_001131023.1:n.721+3709C>A