Canonical Allele Identifier: CA351204672

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672559T>C (hg19) ; chr2:g.237763916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763916T>C , CM000664.2:g.237763916T>C	GRCh38
NC_000002.11:g.238672559T>C , CM000664.1:g.238672559T>C	GRCh37
NC_000002.10:g.238337298T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3711T>C
ENST00000698098.1:c.955+3711T>C	ENSP00000513562.1:n.955+3711T>C
ENST00000308482.14:c.1459+3711T>C MANE Select	ENSP00000310109.9:n.1459+3711T>C
ENST00000244815.9:c.2131T>C	ENSP00000244815.5:p.Ser711Pro
ENST00000289175.10:c.2035T>C	ENSP00000289175.6:p.Ser679Pro
ENST00000308482.13:c.1459+3711T>C	ENSP00000310109.9:n.1459+3711T>C
ENST00000392000.4:c.2203T>C	ENSP00000375857.4:p.Ser735Pro
ENST00000483443.1:n.235+3711T>C
NM_001137550.1:c.1459+3711T>C	NP_001131022.1:n.1459+3711T>C
NM_001137551.1:c.721+3711T>C	NP_001131023.1:n.721+3711T>C
NM_001137552.1:c.2203T>C	NP_001131024.1:p.Ser735Pro
NM_001137553.1:c.2035T>C	NP_001131025.1:p.Ser679Pro
NM_004735.3:c.2131T>C	NP_004726.2:p.Ser711Pro
XM_005246112.3:c.2836T>C	XP_005246169.1:p.Ser946Pro
XM_005246115.3:c.2791T>C	XP_005246172.1:p.Ser931Pro
XM_005246116.3:c.2773T>C	XP_005246173.1:p.Ser925Pro
XM_005246118.3:c.2728T>C	XP_005246175.1:p.Ser910Pro
XM_005246119.3:c.2725T>C	XP_005246176.1:p.Ser909Pro
XM_005246120.3:c.2689T>C	XP_005246177.1:p.Ser897Pro
XM_005246121.3:c.2674T>C	XP_005246178.1:p.Ser892Pro
XM_005246122.3:c.2662T>C	XP_005246179.1:p.Ser888Pro
XM_005246124.1:c.2644T>C	XP_005246181.1:p.Ser882Pro
XM_005246125.3:c.2623T>C	XP_005246182.1:p.Ser875Pro
XM_005246126.3:c.2584T>C	XP_005246183.1:p.Ser862Pro
XM_005246128.1:c.2551T>C	XP_005246185.1:p.Ser851Pro
XM_005246129.3:c.2512T>C	XP_005246186.1:p.Ser838Pro
XM_005246130.3:c.2485T>C	XP_005246187.1:p.Ser829Pro
XM_005246131.3:c.2398T>C	XP_005246188.1:p.Ser800Pro
XM_005246132.3:c.2323T>C	XP_005246189.1:p.Ser775Pro
XM_005246133.1:c.2293T>C	XP_005246190.1:p.Ser765Pro
XM_005246134.1:c.2251T>C	XP_005246191.1:p.Ser751Pro
XM_005246135.1:c.2221T>C	XP_005246192.1:p.Ser741Pro
XM_005246136.1:c.2065T>C	XP_005246193.1:p.Ser689Pro
XM_005246141.3:c.823+3711T>C	XP_005246198.1:n.823+3711T>C
XM_005246142.1:c.751+3711T>C	XP_005246199.1:n.751+3711T>C
XM_006712842.2:c.2734T>C	XP_006712905.1:p.Ser912Pro
XM_006712843.2:c.2629T>C	XP_006712906.1:p.Ser877Pro
XM_006712844.1:c.2563T>C	XP_006712907.1:p.Ser855Pro
XM_006712845.2:c.2545T>C	XP_006712908.1:p.Ser849Pro
XM_006712846.1:c.2449T>C	XP_006712909.1:p.Ser817Pro
XM_006712847.1:c.2389T>C	XP_006712910.1:p.Ser797Pro
XM_006712848.1:c.2317T>C	XP_006712911.1:p.Ser773Pro
XM_011512152.1:c.2869T>C	XP_011510454.1:p.Ser957Pro
XM_011512153.1:c.2851T>C	XP_011510455.1:p.Ser951Pro
XM_011512154.1:c.2839T>C	XP_011510456.1:p.Ser947Pro
XM_011512155.1:c.2830T>C	XP_011510457.1:p.Ser944Pro
XM_011512156.1:c.2797T>C	XP_011510458.1:p.Ser933Pro
XM_011512157.1:c.2683T>C	XP_011510459.1:p.Ser895Pro
XM_011512158.1:c.2611T>C	XP_011510460.1:p.Ser871Pro
XM_011512159.1:c.2419T>C	XP_011510461.1:p.Ser807Pro
XM_011512160.1:c.1555+3711T>C	XP_011510462.1:n.1555+3711T>C
XM_011512161.1:c.1555+3711T>C	XP_011510463.1:n.1555+3711T>C
XM_011512162.1:c.1369+3711T>C	XP_011510464.1:n.1369+3711T>C
XM_011512163.1:c.1297+3711T>C	XP_011510465.1:n.1297+3711T>C
XM_011512164.1:c.751+3711T>C	XP_011510466.1:n.751+3711T>C
XM_011512165.1:c.721+3711T>C	XP_011510467.1:n.721+3711T>C
XM_011512166.1:c.1516+3711T>C	XP_011510468.1:n.1516+3711T>C
XR_923063.1:n.1605+3711T>C
XM_005246141.4:c.823+3711T>C	XP_005246198.1:n.823+3711T>C
XM_005246142.2:c.751+3711T>C	XP_005246199.1:n.751+3711T>C
XM_017005253.2:c.1522+3711T>C	XP_016860742.1:n.1522+3711T>C
XM_017005254.2:c.1522+3711T>C	XP_016860743.1:n.1522+3711T>C
XM_017005255.2:c.1450+3711T>C	XP_016860744.1:n.1450+3711T>C
XM_017005256.2:c.1336+3711T>C	XP_016860745.1:n.1336+3711T>C
XM_017005257.2:c.1387+3711T>C	XP_016860746.1:n.1387+3711T>C
XM_017005258.2:c.1336+3711T>C	XP_016860747.1:n.1336+3711T>C
XM_017005260.2:c.1162+3711T>C	XP_016860749.1:n.1162+3711T>C
XM_017005261.2:c.1099+3711T>C	XP_016860750.1:n.1099+3711T>C
XM_017005262.2:c.1099+3711T>C	XP_016860751.1:n.1099+3711T>C
XM_017005263.2:c.937+3711T>C	XP_016860752.1:n.937+3711T>C
XR_001739039.2:n.2905T>C
XR_001739040.1:n.3070T>C
XR_001739041.2:n.2866T>C
XR_001739042.2:n.2842T>C
XR_001739043.1:n.2818T>C
XR_001739044.2:n.2833T>C
XR_001739045.2:n.2803T>C
XR_001739046.1:n.3150T>C
XR_001739047.2:n.2719T>C
XR_001739048.1:n.2908T>C
XR_001739049.2:n.2653T>C
XR_001739050.2:n.2614T>C
XR_001739051.2:n.2581T>C
XR_001739052.2:n.2554T>C
XR_001739053.1:n.2543T>C
XR_001739054.1:n.2465T>C
XR_001739055.2:n.2482T>C
XR_001739056.2:n.2467T>C
XR_001739057.1:n.2483T>C
XR_001739058.1:n.2662T>C
XR_001739059.2:n.2395T>C
XR_001739060.1:n.2369T>C
XR_001739061.1:n.2411T>C
XR_001739062.1:n.2588T>C
XR_001739063.1:n.2295T>C
XR_001739064.1:n.2556T>C
XR_001739065.1:n.2500T>C
XR_001739066.1:n.2297T>C
XR_001739067.1:n.2204T>C
XR_001739068.1:n.2225T>C
XR_001739069.1:n.2402T>C
XR_001739070.1:n.2266T>C
XR_001739071.1:n.2124T>C
XR_001739072.1:n.2370T>C
XR_001739073.2:n.1591+3711T>C
XR_002959364.1:n.2296T>C
NM_001137550.2:c.1459+3711T>C MANE Select	NP_001131022.1:n.1459+3711T>C
NM_001137552.2:c.2203T>C	NP_001131024.1:p.Ser735Pro
NM_001137553.2:c.2035T>C	NP_001131025.1:p.Ser679Pro
NM_004735.4:c.2131T>C	NP_004726.2:p.Ser711Pro
NM_001137551.2:c.721+3711T>C	NP_001131023.1:n.721+3711T>C