Canonical Allele Identifier: CA766693954

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs3769053
• gnomAD v3: 2-237762149-T-G
• gnomAD v4: 2-237762149-T-G
• MyVariant Identifiers: chr2:g.238670792T>G (hg19) ; chr2:g.237762149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237762149T>G , CM000664.2:g.237762149T>G	GRCh38
NC_000002.11:g.238670792T>G , CM000664.1:g.238670792T>G	GRCh37
NC_000002.10:g.238335531T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+1944T>G
ENST00000698098.1:c.955+1944T>G	ENSP00000513562.1:n.955+1944T>G
ENST00000308482.14:c.1459+1944T>G MANE Select	ENSP00000310109.9:n.1459+1944T>G
ENST00000244815.9:c.818-454T>G	ENSP00000244815.5:n.818-454T>G
ENST00000289175.10:c.722-454T>G	ENSP00000289175.6:n.722-454T>G
ENST00000308482.13:c.1459+1944T>G	ENSP00000310109.9:n.1459+1944T>G
ENST00000392000.4:c.890-454T>G	ENSP00000375857.4:n.890-454T>G
ENST00000483443.1:n.235+1944T>G
NM_001137550.1:c.1459+1944T>G	NP_001131022.1:n.1459+1944T>G
NM_001137551.1:c.721+1944T>G	NP_001131023.1:n.721+1944T>G
NM_001137552.1:c.890-454T>G	NP_001131024.1:n.890-454T>G
NM_001137553.1:c.722-454T>G	NP_001131025.1:n.722-454T>G
NM_004735.3:c.818-454T>G	NP_004726.2:n.818-454T>G
XM_005246112.3:c.1523-454T>G	XP_005246169.1:n.1523-454T>G
XM_005246115.3:c.1478-454T>G	XP_005246172.1:n.1478-454T>G
XM_005246116.3:c.1460-454T>G	XP_005246173.1:n.1460-454T>G
XM_005246118.3:c.1415-454T>G	XP_005246175.1:n.1415-454T>G
XM_005246119.3:c.1412-454T>G	XP_005246176.1:n.1412-454T>G
XM_005246120.3:c.1376-454T>G	XP_005246177.1:n.1376-454T>G
XM_005246121.3:c.1361-454T>G	XP_005246178.1:n.1361-454T>G
XM_005246122.3:c.1349-454T>G	XP_005246179.1:n.1349-454T>G
XM_005246124.1:c.1331-454T>G	XP_005246181.1:n.1331-454T>G
XM_005246125.3:c.1310-454T>G	XP_005246182.1:n.1310-454T>G
XM_005246126.3:c.1271-454T>G	XP_005246183.1:n.1271-454T>G
XM_005246128.1:c.1238-454T>G	XP_005246185.1:n.1238-454T>G
XM_005246129.3:c.1199-454T>G	XP_005246186.1:n.1199-454T>G
XM_005246130.3:c.1172-454T>G	XP_005246187.1:n.1172-454T>G
XM_005246131.3:c.1085-454T>G	XP_005246188.1:n.1085-454T>G
XM_005246132.3:c.1010-454T>G	XP_005246189.1:n.1010-454T>G
XM_005246133.1:c.980-454T>G	XP_005246190.1:n.980-454T>G
XM_005246134.1:c.938-454T>G	XP_005246191.1:n.938-454T>G
XM_005246135.1:c.908-454T>G	XP_005246192.1:n.908-454T>G
XM_005246136.1:c.752-454T>G	XP_005246193.1:n.752-454T>G
XM_005246141.3:c.823+1944T>G	XP_005246198.1:n.823+1944T>G
XM_005246142.1:c.751+1944T>G	XP_005246199.1:n.751+1944T>G
XM_006712842.2:c.1421-454T>G	XP_006712905.1:n.1421-454T>G
XM_006712843.2:c.1316-454T>G	XP_006712906.1:n.1316-454T>G
XM_006712844.1:c.1250-454T>G	XP_006712907.1:n.1250-454T>G
XM_006712845.2:c.1232-454T>G	XP_006712908.1:n.1232-454T>G
XM_006712846.1:c.1136-454T>G	XP_006712909.1:n.1136-454T>G
XM_006712847.1:c.1076-454T>G	XP_006712910.1:n.1076-454T>G
XM_006712848.1:c.1004-454T>G	XP_006712911.1:n.1004-454T>G
XM_011512152.1:c.1556-454T>G	XP_011510454.1:n.1556-454T>G
XM_011512153.1:c.1538-454T>G	XP_011510455.1:n.1538-454T>G
XM_011512154.1:c.1526-454T>G	XP_011510456.1:n.1526-454T>G
XM_011512155.1:c.1517-454T>G	XP_011510457.1:n.1517-454T>G
XM_011512156.1:c.1484-454T>G	XP_011510458.1:n.1484-454T>G
XM_011512157.1:c.1370-454T>G	XP_011510459.1:n.1370-454T>G
XM_011512158.1:c.1298-454T>G	XP_011510460.1:n.1298-454T>G
XM_011512159.1:c.1106-454T>G	XP_011510461.1:n.1106-454T>G
XM_011512160.1:c.1555+1944T>G	XP_011510462.1:n.1555+1944T>G
XM_011512161.1:c.1555+1944T>G	XP_011510463.1:n.1555+1944T>G
XM_011512162.1:c.1369+1944T>G	XP_011510464.1:n.1369+1944T>G
XM_011512163.1:c.1297+1944T>G	XP_011510465.1:n.1297+1944T>G
XM_011512164.1:c.751+1944T>G	XP_011510466.1:n.751+1944T>G
XM_011512165.1:c.721+1944T>G	XP_011510467.1:n.721+1944T>G
XM_011512166.1:c.1516+1944T>G	XP_011510468.1:n.1516+1944T>G
XR_923063.1:n.1605+1944T>G
XM_005246141.4:c.823+1944T>G	XP_005246198.1:n.823+1944T>G
XM_005246142.2:c.751+1944T>G	XP_005246199.1:n.751+1944T>G
XM_017005253.2:c.1522+1944T>G	XP_016860742.1:n.1522+1944T>G
XM_017005254.2:c.1522+1944T>G	XP_016860743.1:n.1522+1944T>G
XM_017005255.2:c.1450+1944T>G	XP_016860744.1:n.1450+1944T>G
XM_017005256.2:c.1336+1944T>G	XP_016860745.1:n.1336+1944T>G
XM_017005257.2:c.1387+1944T>G	XP_016860746.1:n.1387+1944T>G
XM_017005258.2:c.1336+1944T>G	XP_016860747.1:n.1336+1944T>G
XM_017005260.2:c.1162+1944T>G	XP_016860749.1:n.1162+1944T>G
XM_017005261.2:c.1099+1944T>G	XP_016860750.1:n.1099+1944T>G
XM_017005262.2:c.1099+1944T>G	XP_016860751.1:n.1099+1944T>G
XM_017005263.2:c.937+1944T>G	XP_016860752.1:n.937+1944T>G
XR_001739039.2:n.1592-454T>G
XR_001739040.1:n.1757-454T>G
XR_001739041.2:n.1553-454T>G
XR_001739042.2:n.1529-454T>G
XR_001739043.1:n.1505-454T>G
XR_001739044.2:n.1520-454T>G
XR_001739045.2:n.1490-454T>G
XR_001739046.1:n.1837-454T>G
XR_001739047.2:n.1406-454T>G
XR_001739048.1:n.1595-454T>G
XR_001739049.2:n.1340-454T>G
XR_001739050.2:n.1301-454T>G
XR_001739051.2:n.1268-454T>G
XR_001739052.2:n.1241-454T>G
XR_001739053.1:n.1230-454T>G
XR_001739054.1:n.1152-454T>G
XR_001739055.2:n.1169-454T>G
XR_001739056.2:n.1154-454T>G
XR_001739057.1:n.1170-454T>G
XR_001739058.1:n.1349-454T>G
XR_001739059.2:n.1082-454T>G
XR_001739060.1:n.1056-454T>G
XR_001739061.1:n.1098-454T>G
XR_001739062.1:n.1275-454T>G
XR_001739063.1:n.982-454T>G
XR_001739064.1:n.1243-454T>G
XR_001739065.1:n.1187-454T>G
XR_001739066.1:n.984-454T>G
XR_001739067.1:n.891-454T>G
XR_001739068.1:n.912-454T>G
XR_001739069.1:n.1089-454T>G
XR_001739070.1:n.953-454T>G
XR_001739071.1:n.811-454T>G
XR_001739072.1:n.1057-454T>G
XR_001739073.2:n.1591+1944T>G
XR_002959364.1:n.983-454T>G
NM_001137550.2:c.1459+1944T>G MANE Select	NP_001131022.1:n.1459+1944T>G
NM_001137552.2:c.890-454T>G	NP_001131024.1:n.890-454T>G
NM_001137553.2:c.722-454T>G	NP_001131025.1:n.722-454T>G
NM_004735.4:c.818-454T>G	NP_004726.2:n.818-454T>G
NM_001137551.2:c.721+1944T>G	NP_001131023.1:n.721+1944T>G