Canonical Allele Identifier: CA2679364181

Gene: RIMS1

Linked Data

• gnomAD v4: 6-72333530-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.72333530A>G , CM000668.2:g.72333530A>G	GRCh38
NC_000006.11:g.73043233A>G , CM000668.1:g.73043233A>G	GRCh37
NC_000006.10:g.73099954A>G	NCBI36
NG_016209.1:g.451584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697193.1:c.3600-70A>G	ENSP00000513179.1:n.3600-70A>G
ENST00000521978.6:c.4131-70A>G MANE Select	ENSP00000428417.1:n.4131-70A>G
ENST00000264839.11:c.3678-70A>G	ENSP00000264839.7:n.3678-70A>G
ENST00000370420.8:c.1275-70A>G	ENSP00000359448.4:n.1275-70A>G
ENST00000401910.7:c.2091-70A>G	ENSP00000385649.3:n.2091-70A>G
ENST00000425662.6:c.1570+41484A>G	ENSP00000411235.2:n.1570+41484A>G
ENST00000453976.6:c.1626-70A>G	ENSP00000389503.2:n.1626-70A>G
ENST00000463023.6:n.254+41484A>G
ENST00000491071.6:c.3600-70A>G	ENSP00000430101.1:n.3600-70A>G
ENST00000517433.5:c.2167-70A>G
ENST00000517827.5:c.1768+41484A>G	ENSP00000428367.1:n.1768+41484A>G
ENST00000517960.5:c.3507-97A>G	ENSP00000429959.1:n.3507-97A>G
ENST00000518273.5:c.3403+41484A>G	ENSP00000430408.1:n.3403+41484A>G
ENST00000520567.5:c.3316+41484A>G	ENSP00000430502.1:n.3316+41484A>G
ENST00000521978.5:c.4131-70A>G	ENSP00000428417.1:n.4131-70A>G
ENST00000522211.5:c.884-70A>G
ENST00000522291.5:c.3163+41484A>G	ENSP00000430932.1:n.3163+41484A>G
ENST00000523963.5:c.1741+41484A>G	ENSP00000428328.1:n.1741+41484A>G
NM_001168407.1:c.2091-70A>G	NP_001161879.1:n.2091-70A>G
NM_001168408.1:c.1741+41484A>G	NP_001161880.1:n.1741+41484A>G
NM_001168409.1:c.1570+41484A>G	NP_001161881.1:n.1570+41484A>G
NM_001168410.1:c.1768+41484A>G	NP_001161882.1:n.1768+41484A>G
NM_014989.5:c.4131-70A>G	NP_055804.2:n.4131-70A>G
XM_005248688.2:c.3600-70A>G	XP_005248745.1:n.3600-70A>G
XM_011535602.1:c.2304-70A>G	XP_011533904.1:n.2304-70A>G
XM_011535603.1:c.2151-70A>G	XP_011533905.1:n.2151-70A>G
XM_011535604.1:c.2088-70A>G	XP_011533906.1:n.2088-70A>G
XM_011535605.1:c.4077-70A>G	XP_011533907.1:n.4077-70A>G
XM_011535606.1:c.2049-70A>G	XP_011533908.1:n.2049-70A>G
XM_011535607.1:c.2031-70A>G	XP_011533909.1:n.2031-70A>G
XM_011535608.1:c.1968-70A>G	XP_011533910.1:n.1968-70A>G
XM_011535609.1:c.1926-97A>G	XP_011533911.1:n.1926-97A>G
XM_011535610.1:c.1896-70A>G	XP_011533912.1:n.1896-70A>G
XM_011535611.1:c.1863-70A>G	XP_011533913.1:n.1863-70A>G
XM_011535612.1:c.1810+41484A>G	XP_011533914.1:n.1810+41484A>G
XM_011535613.1:c.1738+41484A>G	XP_011533915.1:n.1738+41484A>G
XM_011535615.1:c.1735+41484A>G	XP_011533917.1:n.1735+41484A>G
XM_011535616.1:c.1720+41484A>G	XP_011533918.1:n.1720+41484A>G
XM_011535617.1:c.1582+41484A>G	XP_011533919.1:n.1582+41484A>G
XM_011535618.1:c.423-70A>G	XP_011533920.1:n.423-70A>G
NM_001350414.1:c.2052-70A>G	NP_001337343.1:n.2052-70A>G
NM_001350415.1:c.2175-97A>G	NP_001337344.1:n.2175-97A>G
NM_001350416.1:c.2124-97A>G	NP_001337345.1:n.2124-97A>G
NM_001350417.1:c.1813+41484A>G	NP_001337346.1:n.1813+41484A>G
NM_001350418.1:c.2097-97A>G	NP_001337347.1:n.2097-97A>G
NM_001350419.1:c.1585+41484A>G	NP_001337348.1:n.1585+41484A>G
NM_001350420.1:c.2205-70A>G	NP_001337349.1:n.2205-70A>G
NM_001350421.1:c.1950-70A>G	NP_001337350.1:n.1950-70A>G
NM_001350422.1:c.1810+41484A>G	NP_001337351.1:n.1810+41484A>G
NM_001350423.1:c.1866-97A>G	NP_001337352.1:n.1866-97A>G
NM_001350424.1:c.1672+41484A>G	NP_001337353.1:n.1672+41484A>G
NM_001350425.1:c.2049-70A>G	NP_001337354.1:n.2049-70A>G
NM_001350426.1:c.1660+41484A>G	NP_001337355.1:n.1660+41484A>G
NM_001350427.1:c.1738+41484A>G	NP_001337356.1:n.1738+41484A>G
NM_001350428.1:c.1744+41484A>G	NP_001337357.1:n.1744+41484A>G
NM_001350429.1:c.1869-70A>G	NP_001337358.1:n.1869-70A>G
NM_001350430.1:c.1741+41484A>G	NP_001337359.1:n.1741+41484A>G
NM_001350431.1:c.2187-70A>G	NP_001337360.1:n.2187-70A>G
NM_001350432.1:c.1648+41484A>G	NP_001337361.1:n.1648+41484A>G
NM_001350433.1:c.2178-70A>G	NP_001337362.1:n.2178-70A>G
NM_001350434.1:c.1888+41484A>G	NP_001337363.1:n.1888+41484A>G
NM_001350435.1:c.2040-70A>G	NP_001337364.1:n.2040-70A>G
NM_001350436.1:c.2283-70A>G	NP_001337365.1:n.2283-70A>G
NM_001350437.1:c.2034-70A>G	NP_001337366.1:n.2034-70A>G
NM_001350438.1:c.1993+41484A>G	NP_001337367.1:n.1993+41484A>G
NM_001350439.1:c.2022-70A>G	NP_001337368.1:n.2022-70A>G
NM_001350440.1:c.1657+41484A>G	NP_001337369.1:n.1657+41484A>G
NM_001350441.1:c.2019-70A>G	NP_001337370.1:n.2019-70A>G
NM_001350442.1:c.1996+41484A>G	NP_001337371.1:n.1996+41484A>G
NM_001350443.1:c.2019-97A>G	NP_001337372.1:n.2019-97A>G
NM_001350444.1:c.1866-70A>G	NP_001337373.1:n.1866-70A>G
NM_001350445.1:c.1894+41484A>G	NP_001337374.1:n.1894+41484A>G
NM_001350446.1:c.2277-70A>G	NP_001337375.1:n.2277-70A>G
NM_001350447.1:c.1938-70A>G	NP_001337376.1:n.1938-70A>G
NM_001350448.1:c.2094-70A>G	NP_001337377.1:n.2094-70A>G
NM_001350449.1:c.1720+41484A>G	NP_001337378.1:n.1720+41484A>G
NM_001350450.1:c.1669+41484A>G	NP_001337379.1:n.1669+41484A>G
NM_001350454.1:c.2001-70A>G	NP_001337383.1:n.2001-70A>G
NM_001350455.1:c.1588+41484A>G	NP_001337384.1:n.1588+41484A>G
NM_001350456.1:c.2274-70A>G	NP_001337385.1:n.2274-70A>G
NM_001350457.1:c.2031-70A>G	NP_001337386.1:n.2031-70A>G
NM_001350458.1:c.2100-70A>G	NP_001337387.1:n.2100-70A>G
NM_001350459.1:c.1953-70A>G	NP_001337388.1:n.1953-70A>G
NM_001350460.1:c.1971-70A>G	NP_001337389.1:n.1971-70A>G
NM_001350461.1:c.1848-97A>G	NP_001337390.1:n.1848-97A>G
NM_001350462.1:c.2136-70A>G	NP_001337391.1:n.2136-70A>G
NM_001350463.1:c.1776-70A>G	NP_001337392.1:n.1776-70A>G
NM_001350464.1:c.1779-70A>G	NP_001337393.1:n.1779-70A>G
NM_001350465.1:c.1498+41484A>G	NP_001337394.1:n.1498+41484A>G
NM_001350466.1:c.1809-97A>G	NP_001337395.1:n.1809-97A>G
NM_001350467.1:c.1698-70A>G	NP_001337396.1:n.1698-70A>G
NM_001350468.1:c.1623-70A>G	NP_001337397.1:n.1623-70A>G
NM_001350469.1:c.1851-70A>G	NP_001337398.1:n.1851-70A>G
NM_001350470.1:c.1774+41484A>G	NP_001337399.1:n.1774+41484A>G
NM_001350471.1:c.1932-70A>G	NP_001337400.1:n.1932-70A>G
NM_001350472.1:c.1693+41484A>G	NP_001337401.1:n.1693+41484A>G
NM_001350473.1:c.1696+41484A>G	NP_001337402.1:n.1696+41484A>G
NM_001350474.1:c.1824-70A>G	NP_001337403.1:n.1824-70A>G
XM_005248688.4:c.3600-70A>G	XP_005248745.1:n.3600-70A>G
XM_011535604.3:c.3669-70A>G	XP_011533906.2:n.3669-70A>G
XM_017010516.2:c.3918-70A>G	XP_016866005.1:n.3918-70A>G
XM_017010517.2:c.3825-70A>G	XP_016866006.1:n.3825-70A>G
XM_017010518.2:c.3822-70A>G	XP_016866007.1:n.3822-70A>G
XM_017010519.2:c.3765-70A>G	XP_016866008.1:n.3765-70A>G
XM_017010520.2:c.3753-70A>G	XP_016866009.1:n.3753-70A>G
XM_017010521.2:c.3735-70A>G	XP_016866010.1:n.3735-70A>G
XM_017010522.2:c.3672-70A>G	XP_016866011.1:n.3672-70A>G
XM_017010523.2:c.3672-97A>G	XP_016866012.1:n.3672-97A>G
XM_017010524.2:c.3627-70A>G	XP_016866013.1:n.3627-70A>G
XM_017010525.2:c.3612-70A>G	XP_016866014.1:n.3612-70A>G
XM_017010526.2:c.3600-70A>G	XP_016866015.1:n.3600-70A>G
XM_017010527.2:c.3597-70A>G	XP_016866016.1:n.3597-70A>G
XM_017010537.2:c.2175-70A>G	XP_016866026.1:n.2175-70A>G
XM_017010544.2:c.2019-70A>G	XP_016866033.1:n.2019-70A>G
XM_017010546.2:c.2022-97A>G	XP_016866035.1:n.2022-97A>G
XM_017010556.2:c.249-70A>G	XP_016866045.1:n.249-70A>G
XM_017010557.2:c.104-93A>G	XP_016866046.1:n.104-93A>G
XM_017010558.2:c.104-93A>G	XP_016866047.1:n.104-93A>G
XM_024446369.1:c.4005-70A>G	XP_024302137.1:n.4005-70A>G
XM_024446370.1:c.3669-97A>G	XP_024302138.1:n.3669-97A>G
XM_024446371.1:c.3630-97A>G	XP_024302139.1:n.3630-97A>G
XM_024446372.1:c.2172-70A>G	XP_024302140.1:n.2172-70A>G
NM_001168407.2:c.2091-70A>G	NP_001161879.1:n.2091-70A>G
NM_001168408.2:c.1741+41484A>G	NP_001161880.1:n.1741+41484A>G
NM_001168409.2:c.1570+41484A>G	NP_001161881.1:n.1570+41484A>G
NM_001168410.2:c.1768+41484A>G	NP_001161882.1:n.1768+41484A>G
NM_001350414.2:c.2052-70A>G	NP_001337343.1:n.2052-70A>G
NM_001350415.2:c.2175-97A>G	NP_001337344.1:n.2175-97A>G
NM_001350416.2:c.2124-97A>G	NP_001337345.1:n.2124-97A>G
NM_001350417.2:c.1813+41484A>G	NP_001337346.1:n.1813+41484A>G
NM_001350418.2:c.2097-97A>G	NP_001337347.1:n.2097-97A>G
NM_001350419.2:c.1585+41484A>G	NP_001337348.1:n.1585+41484A>G
NM_001350420.2:c.2205-70A>G	NP_001337349.1:n.2205-70A>G
NM_001350421.2:c.1950-70A>G	NP_001337350.1:n.1950-70A>G
NM_001350422.2:c.1810+41484A>G	NP_001337351.1:n.1810+41484A>G
NM_001350423.2:c.1866-97A>G	NP_001337352.1:n.1866-97A>G
NM_001350424.2:c.1672+41484A>G	NP_001337353.1:n.1672+41484A>G
NM_001350425.2:c.2049-70A>G	NP_001337354.1:n.2049-70A>G
NM_001350426.2:c.1660+41484A>G	NP_001337355.1:n.1660+41484A>G
NM_001350427.2:c.1738+41484A>G	NP_001337356.1:n.1738+41484A>G
NM_001350428.2:c.1744+41484A>G	NP_001337357.1:n.1744+41484A>G
NM_001350429.2:c.1869-70A>G	NP_001337358.1:n.1869-70A>G
NM_001350430.2:c.1741+41484A>G	NP_001337359.1:n.1741+41484A>G
NM_001350431.2:c.2187-70A>G	NP_001337360.1:n.2187-70A>G
NM_001350432.2:c.1648+41484A>G	NP_001337361.1:n.1648+41484A>G
NM_001350433.2:c.2178-70A>G	NP_001337362.1:n.2178-70A>G
NM_001350434.2:c.1888+41484A>G	NP_001337363.1:n.1888+41484A>G
NM_001350435.2:c.2040-70A>G	NP_001337364.1:n.2040-70A>G
NM_001350436.2:c.2283-70A>G	NP_001337365.1:n.2283-70A>G
NM_001350437.2:c.2034-70A>G	NP_001337366.1:n.2034-70A>G
NM_001350438.2:c.1993+41484A>G	NP_001337367.1:n.1993+41484A>G
NM_001350439.2:c.2022-70A>G	NP_001337368.1:n.2022-70A>G
NM_001350440.2:c.1657+41484A>G	NP_001337369.1:n.1657+41484A>G
NM_001350441.2:c.2019-70A>G	NP_001337370.1:n.2019-70A>G
NM_001350442.2:c.1996+41484A>G	NP_001337371.1:n.1996+41484A>G
NM_001350443.2:c.2019-97A>G	NP_001337372.1:n.2019-97A>G
NM_001350444.2:c.1866-70A>G	NP_001337373.1:n.1866-70A>G
NM_001350445.2:c.1894+41484A>G	NP_001337374.1:n.1894+41484A>G
NM_001350446.2:c.2277-70A>G	NP_001337375.1:n.2277-70A>G
NM_001350447.2:c.1938-70A>G	NP_001337376.1:n.1938-70A>G
NM_001350448.2:c.2094-70A>G	NP_001337377.1:n.2094-70A>G
NM_001350449.2:c.1720+41484A>G	NP_001337378.1:n.1720+41484A>G
NM_001350450.2:c.1669+41484A>G	NP_001337379.1:n.1669+41484A>G
NM_001350454.2:c.2001-70A>G	NP_001337383.1:n.2001-70A>G
NM_001350455.2:c.1588+41484A>G	NP_001337384.1:n.1588+41484A>G
NM_001350456.2:c.2274-70A>G	NP_001337385.1:n.2274-70A>G
NM_001350457.2:c.2031-70A>G	NP_001337386.1:n.2031-70A>G
NM_001350458.2:c.2100-70A>G	NP_001337387.1:n.2100-70A>G
NM_001350459.2:c.1953-70A>G	NP_001337388.1:n.1953-70A>G
NM_001350460.2:c.1971-70A>G	NP_001337389.1:n.1971-70A>G
NM_001350461.2:c.1848-97A>G	NP_001337390.1:n.1848-97A>G
NM_001350462.2:c.2136-70A>G	NP_001337391.1:n.2136-70A>G
NM_001350463.2:c.1776-70A>G	NP_001337392.1:n.1776-70A>G
NM_001350464.2:c.1779-70A>G	NP_001337393.1:n.1779-70A>G
NM_001350465.2:c.1498+41484A>G	NP_001337394.1:n.1498+41484A>G
NM_001350466.2:c.1809-97A>G	NP_001337395.1:n.1809-97A>G
NM_001350467.2:c.1698-70A>G	NP_001337396.1:n.1698-70A>G
NM_001350468.2:c.1623-70A>G	NP_001337397.1:n.1623-70A>G
NM_001350469.2:c.1851-70A>G	NP_001337398.1:n.1851-70A>G
NM_001350470.2:c.1774+41484A>G	NP_001337399.1:n.1774+41484A>G
NM_001350471.2:c.1932-70A>G	NP_001337400.1:n.1932-70A>G
NM_001350472.2:c.1693+41484A>G	NP_001337401.1:n.1693+41484A>G
NM_001350473.2:c.1696+41484A>G	NP_001337402.1:n.1696+41484A>G
NM_001350474.2:c.1824-70A>G	NP_001337403.1:n.1824-70A>G
NM_014989.7:c.4131-70A>G MANE Select	NP_055804.2:n.4131-70A>G