Canonical Allele Identifier: CA431937344

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672558C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763915C>T , CM000664.2:g.237763915C>T	GRCh38
NC_000002.11:g.238672558C>T , CM000664.1:g.238672558C>T	GRCh37
NC_000002.10:g.238337297C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3710C>T
ENST00000698098.1:c.955+3710C>T	ENSP00000513562.1:n.955+3710C>T
ENST00000308482.14:c.1459+3710C>T MANE Select	ENSP00000310109.9:n.1459+3710C>T
ENST00000244815.9:c.2130C>T	ENSP00000244815.5:p.Pro710=
ENST00000289175.10:c.2034C>T	ENSP00000289175.6:p.Pro678=
ENST00000308482.13:c.1459+3710C>T	ENSP00000310109.9:n.1459+3710C>T
ENST00000392000.4:c.2202C>T	ENSP00000375857.4:p.Pro734=
ENST00000483443.1:n.235+3710C>T
NM_001137550.1:c.1459+3710C>T	NP_001131022.1:n.1459+3710C>T
NM_001137551.1:c.721+3710C>T	NP_001131023.1:n.721+3710C>T
NM_001137552.1:c.2202C>T	NP_001131024.1:p.Pro734=
NM_001137553.1:c.2034C>T	NP_001131025.1:p.Pro678=
NM_004735.3:c.2130C>T	NP_004726.2:p.Pro710=
XM_005246112.3:c.2835C>T	XP_005246169.1:p.Pro945=
XM_005246115.3:c.2790C>T	XP_005246172.1:p.Pro930=
XM_005246116.3:c.2772C>T	XP_005246173.1:p.Pro924=
XM_005246118.3:c.2727C>T	XP_005246175.1:p.Pro909=
XM_005246119.3:c.2724C>T	XP_005246176.1:p.Pro908=
XM_005246120.3:c.2688C>T	XP_005246177.1:p.Pro896=
XM_005246121.3:c.2673C>T	XP_005246178.1:p.Pro891=
XM_005246122.3:c.2661C>T	XP_005246179.1:p.Pro887=
XM_005246124.1:c.2643C>T	XP_005246181.1:p.Pro881=
XM_005246125.3:c.2622C>T	XP_005246182.1:p.Pro874=
XM_005246126.3:c.2583C>T	XP_005246183.1:p.Pro861=
XM_005246128.1:c.2550C>T	XP_005246185.1:p.Pro850=
XM_005246129.3:c.2511C>T	XP_005246186.1:p.Pro837=
XM_005246130.3:c.2484C>T	XP_005246187.1:p.Pro828=
XM_005246131.3:c.2397C>T	XP_005246188.1:p.Pro799=
XM_005246132.3:c.2322C>T	XP_005246189.1:p.Pro774=
XM_005246133.1:c.2292C>T	XP_005246190.1:p.Pro764=
XM_005246134.1:c.2250C>T	XP_005246191.1:p.Pro750=
XM_005246135.1:c.2220C>T	XP_005246192.1:p.Pro740=
XM_005246136.1:c.2064C>T	XP_005246193.1:p.Pro688=
XM_005246141.3:c.823+3710C>T	XP_005246198.1:n.823+3710C>T
XM_005246142.1:c.751+3710C>T	XP_005246199.1:n.751+3710C>T
XM_006712842.2:c.2733C>T	XP_006712905.1:p.Pro911=
XM_006712843.2:c.2628C>T	XP_006712906.1:p.Pro876=
XM_006712844.1:c.2562C>T	XP_006712907.1:p.Pro854=
XM_006712845.2:c.2544C>T	XP_006712908.1:p.Pro848=
XM_006712846.1:c.2448C>T	XP_006712909.1:p.Pro816=
XM_006712847.1:c.2388C>T	XP_006712910.1:p.Pro796=
XM_006712848.1:c.2316C>T	XP_006712911.1:p.Pro772=
XM_011512152.1:c.2868C>T	XP_011510454.1:p.Pro956=
XM_011512153.1:c.2850C>T	XP_011510455.1:p.Pro950=
XM_011512154.1:c.2838C>T	XP_011510456.1:p.Pro946=
XM_011512155.1:c.2829C>T	XP_011510457.1:p.Pro943=
XM_011512156.1:c.2796C>T	XP_011510458.1:p.Pro932=
XM_011512157.1:c.2682C>T	XP_011510459.1:p.Pro894=
XM_011512158.1:c.2610C>T	XP_011510460.1:p.Pro870=
XM_011512159.1:c.2418C>T	XP_011510461.1:p.Pro806=
XM_011512160.1:c.1555+3710C>T	XP_011510462.1:n.1555+3710C>T
XM_011512161.1:c.1555+3710C>T	XP_011510463.1:n.1555+3710C>T
XM_011512162.1:c.1369+3710C>T	XP_011510464.1:n.1369+3710C>T
XM_011512163.1:c.1297+3710C>T	XP_011510465.1:n.1297+3710C>T
XM_011512164.1:c.751+3710C>T	XP_011510466.1:n.751+3710C>T
XM_011512165.1:c.721+3710C>T	XP_011510467.1:n.721+3710C>T
XM_011512166.1:c.1516+3710C>T	XP_011510468.1:n.1516+3710C>T
XR_923063.1:n.1605+3710C>T
XM_005246141.4:c.823+3710C>T	XP_005246198.1:n.823+3710C>T
XM_005246142.2:c.751+3710C>T	XP_005246199.1:n.751+3710C>T
XM_017005253.2:c.1522+3710C>T	XP_016860742.1:n.1522+3710C>T
XM_017005254.2:c.1522+3710C>T	XP_016860743.1:n.1522+3710C>T
XM_017005255.2:c.1450+3710C>T	XP_016860744.1:n.1450+3710C>T
XM_017005256.2:c.1336+3710C>T	XP_016860745.1:n.1336+3710C>T
XM_017005257.2:c.1387+3710C>T	XP_016860746.1:n.1387+3710C>T
XM_017005258.2:c.1336+3710C>T	XP_016860747.1:n.1336+3710C>T
XM_017005260.2:c.1162+3710C>T	XP_016860749.1:n.1162+3710C>T
XM_017005261.2:c.1099+3710C>T	XP_016860750.1:n.1099+3710C>T
XM_017005262.2:c.1099+3710C>T	XP_016860751.1:n.1099+3710C>T
XM_017005263.2:c.937+3710C>T	XP_016860752.1:n.937+3710C>T
XR_001739039.2:n.2904C>T
XR_001739040.1:n.3069C>T
XR_001739041.2:n.2865C>T
XR_001739042.2:n.2841C>T
XR_001739043.1:n.2817C>T
XR_001739044.2:n.2832C>T
XR_001739045.2:n.2802C>T
XR_001739046.1:n.3149C>T
XR_001739047.2:n.2718C>T
XR_001739048.1:n.2907C>T
XR_001739049.2:n.2652C>T
XR_001739050.2:n.2613C>T
XR_001739051.2:n.2580C>T
XR_001739052.2:n.2553C>T
XR_001739053.1:n.2542C>T
XR_001739054.1:n.2464C>T
XR_001739055.2:n.2481C>T
XR_001739056.2:n.2466C>T
XR_001739057.1:n.2482C>T
XR_001739058.1:n.2661C>T
XR_001739059.2:n.2394C>T
XR_001739060.1:n.2368C>T
XR_001739061.1:n.2410C>T
XR_001739062.1:n.2587C>T
XR_001739063.1:n.2294C>T
XR_001739064.1:n.2555C>T
XR_001739065.1:n.2499C>T
XR_001739066.1:n.2296C>T
XR_001739067.1:n.2203C>T
XR_001739068.1:n.2224C>T
XR_001739069.1:n.2401C>T
XR_001739070.1:n.2265C>T
XR_001739071.1:n.2123C>T
XR_001739072.1:n.2369C>T
XR_001739073.2:n.1591+3710C>T
XR_002959364.1:n.2295C>T
NM_001137550.2:c.1459+3710C>T MANE Select	NP_001131022.1:n.1459+3710C>T
NM_001137552.2:c.2202C>T	NP_001131024.1:p.Pro734=
NM_001137553.2:c.2034C>T	NP_001131025.1:p.Pro678=
NM_004735.4:c.2130C>T	NP_004726.2:p.Pro710=
NM_001137551.2:c.721+3710C>T	NP_001131023.1:n.721+3710C>T