Canonical Allele Identifier: CA450885921

Gene: RIMS1

Linked Data

• MyVariant Identifiers: chr6:g.73043342T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.72333639T>G , CM000668.2:g.72333639T>G	GRCh38
NC_000006.11:g.73043342T>G , CM000668.1:g.73043342T>G	GRCh37
NC_000006.10:g.73100063T>G	NCBI36
NG_016209.1:g.451693T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697193.1:c.3639T>G	ENSP00000513179.1:p.Thr1213=
ENST00000521978.6:c.4170T>G MANE Select	ENSP00000428417.1:p.Thr1390=
ENST00000264839.11:c.3717T>G	ENSP00000264839.7:p.Thr1239=
ENST00000370420.8:c.1314T>G	ENSP00000359448.4:p.Thr438=
ENST00000401910.7:c.2130T>G	ENSP00000385649.3:p.Thr710=
ENST00000425662.6:c.1570+41593T>G	ENSP00000411235.2:n.1570+41593T>G
ENST00000453976.6:c.1665T>G	ENSP00000389503.2:p.Thr555=
ENST00000463023.6:n.254+41593T>G
ENST00000491071.6:c.3639T>G	ENSP00000430101.1:p.Thr1213=
ENST00000517433.5:c.2206T>G
ENST00000517827.5:c.1768+41593T>G	ENSP00000428367.1:n.1768+41593T>G
ENST00000517960.5:c.3519T>G	ENSP00000429959.1:p.Thr1173=
ENST00000518273.5:c.3403+41593T>G	ENSP00000430408.1:n.3403+41593T>G
ENST00000520567.5:c.3316+41593T>G	ENSP00000430502.1:n.3316+41593T>G
ENST00000521978.5:c.4170T>G	ENSP00000428417.1:p.Thr1390=
ENST00000522211.5:c.923T>G
ENST00000522291.5:c.3163+41593T>G	ENSP00000430932.1:n.3163+41593T>G
ENST00000523963.5:c.1741+41593T>G	ENSP00000428328.1:n.1741+41593T>G
NM_001168407.1:c.2130T>G	NP_001161879.1:p.Thr710=
NM_001168408.1:c.1741+41593T>G	NP_001161880.1:n.1741+41593T>G
NM_001168409.1:c.1570+41593T>G	NP_001161881.1:n.1570+41593T>G
NM_001168410.1:c.1768+41593T>G	NP_001161882.1:n.1768+41593T>G
NM_014989.5:c.4170T>G	NP_055804.2:p.Thr1390=
XM_005248688.2:c.3639T>G	XP_005248745.1:p.Thr1213=
XM_011535602.1:c.2343T>G	XP_011533904.1:p.Thr781=
XM_011535603.1:c.2190T>G	XP_011533905.1:p.Thr730=
XM_011535604.1:c.2127T>G	XP_011533906.1:p.Thr709=
XM_011535605.1:c.4116T>G	XP_011533907.1:p.Thr1372=
XM_011535606.1:c.2088T>G	XP_011533908.1:p.Thr696=
XM_011535607.1:c.2070T>G	XP_011533909.1:p.Thr690=
XM_011535608.1:c.2007T>G	XP_011533910.1:p.Thr669=
XM_011535609.1:c.1938T>G	XP_011533911.1:p.Thr646=
XM_011535610.1:c.1935T>G	XP_011533912.1:p.Thr645=
XM_011535611.1:c.1902T>G	XP_011533913.1:p.Thr634=
XM_011535612.1:c.1810+41593T>G	XP_011533914.1:n.1810+41593T>G
XM_011535613.1:c.1738+41593T>G	XP_011533915.1:n.1738+41593T>G
XM_011535615.1:c.1735+41593T>G	XP_011533917.1:n.1735+41593T>G
XM_011535616.1:c.1720+41593T>G	XP_011533918.1:n.1720+41593T>G
XM_011535617.1:c.1582+41593T>G	XP_011533919.1:n.1582+41593T>G
XM_011535618.1:c.462T>G	XP_011533920.1:p.Thr154=
NM_001350414.1:c.2091T>G	NP_001337343.1:p.Thr697=
NM_001350415.1:c.2187T>G	NP_001337344.1:p.Thr729=
NM_001350416.1:c.2136T>G	NP_001337345.1:p.Thr712=
NM_001350417.1:c.1813+41593T>G	NP_001337346.1:n.1813+41593T>G
NM_001350418.1:c.2109T>G	NP_001337347.1:p.Thr703=
NM_001350419.1:c.1585+41593T>G	NP_001337348.1:n.1585+41593T>G
NM_001350420.1:c.2244T>G	NP_001337349.1:p.Thr748=
NM_001350421.1:c.1989T>G	NP_001337350.1:p.Thr663=
NM_001350422.1:c.1810+41593T>G	NP_001337351.1:n.1810+41593T>G
NM_001350423.1:c.1878T>G	NP_001337352.1:p.Thr626=
NM_001350424.1:c.1672+41593T>G	NP_001337353.1:n.1672+41593T>G
NM_001350425.1:c.2088T>G	NP_001337354.1:p.Thr696=
NM_001350426.1:c.1660+41593T>G	NP_001337355.1:n.1660+41593T>G
NM_001350427.1:c.1738+41593T>G	NP_001337356.1:n.1738+41593T>G
NM_001350428.1:c.1744+41593T>G	NP_001337357.1:n.1744+41593T>G
NM_001350429.1:c.1908T>G	NP_001337358.1:p.Thr636=
NM_001350430.1:c.1741+41593T>G	NP_001337359.1:n.1741+41593T>G
NM_001350431.1:c.2226T>G	NP_001337360.1:p.Thr742=
NM_001350432.1:c.1648+41593T>G	NP_001337361.1:n.1648+41593T>G
NM_001350433.1:c.2217T>G	NP_001337362.1:p.Thr739=
NM_001350434.1:c.1888+41593T>G	NP_001337363.1:n.1888+41593T>G
NM_001350435.1:c.2079T>G	NP_001337364.1:p.Thr693=
NM_001350436.1:c.2322T>G	NP_001337365.1:p.Thr774=
NM_001350437.1:c.2073T>G	NP_001337366.1:p.Thr691=
NM_001350438.1:c.1993+41593T>G	NP_001337367.1:n.1993+41593T>G
NM_001350439.1:c.2061T>G	NP_001337368.1:p.Thr687=
NM_001350440.1:c.1657+41593T>G	NP_001337369.1:n.1657+41593T>G
NM_001350441.1:c.2058T>G	NP_001337370.1:p.Thr686=
NM_001350442.1:c.1996+41593T>G	NP_001337371.1:n.1996+41593T>G
NM_001350443.1:c.2031T>G	NP_001337372.1:p.Thr677=
NM_001350444.1:c.1905T>G	NP_001337373.1:p.Thr635=
NM_001350445.1:c.1894+41593T>G	NP_001337374.1:n.1894+41593T>G
NM_001350446.1:c.2316T>G	NP_001337375.1:p.Thr772=
NM_001350447.1:c.1977T>G	NP_001337376.1:p.Thr659=
NM_001350448.1:c.2133T>G	NP_001337377.1:p.Thr711=
NM_001350449.1:c.1720+41593T>G	NP_001337378.1:n.1720+41593T>G
NM_001350450.1:c.1669+41593T>G	NP_001337379.1:n.1669+41593T>G
NM_001350454.1:c.2040T>G	NP_001337383.1:p.Thr680=
NM_001350455.1:c.1588+41593T>G	NP_001337384.1:n.1588+41593T>G
NM_001350456.1:c.2313T>G	NP_001337385.1:p.Thr771=
NM_001350457.1:c.2070T>G	NP_001337386.1:p.Thr690=
NM_001350458.1:c.2139T>G	NP_001337387.1:p.Thr713=
NM_001350459.1:c.1992T>G	NP_001337388.1:p.Thr664=
NM_001350460.1:c.2010T>G	NP_001337389.1:p.Thr670=
NM_001350461.1:c.1860T>G	NP_001337390.1:p.Thr620=
NM_001350462.1:c.2175T>G	NP_001337391.1:p.Thr725=
NM_001350463.1:c.1815T>G	NP_001337392.1:p.Thr605=
NM_001350464.1:c.1818T>G	NP_001337393.1:p.Thr606=
NM_001350465.1:c.1498+41593T>G	NP_001337394.1:n.1498+41593T>G
NM_001350466.1:c.1821T>G	NP_001337395.1:p.Thr607=
NM_001350467.1:c.1737T>G	NP_001337396.1:p.Thr579=
NM_001350468.1:c.1662T>G	NP_001337397.1:p.Thr554=
NM_001350469.1:c.1890T>G	NP_001337398.1:p.Thr630=
NM_001350470.1:c.1774+41593T>G	NP_001337399.1:n.1774+41593T>G
NM_001350471.1:c.1971T>G	NP_001337400.1:p.Thr657=
NM_001350472.1:c.1693+41593T>G	NP_001337401.1:n.1693+41593T>G
NM_001350473.1:c.1696+41593T>G	NP_001337402.1:n.1696+41593T>G
NM_001350474.1:c.1863T>G	NP_001337403.1:p.Thr621=
XM_005248688.4:c.3639T>G	XP_005248745.1:p.Thr1213=
XM_011535604.3:c.3708T>G	XP_011533906.2:p.Thr1236=
XM_017010516.2:c.3957T>G	XP_016866005.1:p.Thr1319=
XM_017010517.2:c.3864T>G	XP_016866006.1:p.Thr1288=
XM_017010518.2:c.3861T>G	XP_016866007.1:p.Thr1287=
XM_017010519.2:c.3804T>G	XP_016866008.1:p.Thr1268=
XM_017010520.2:c.3792T>G	XP_016866009.1:p.Thr1264=
XM_017010521.2:c.3774T>G	XP_016866010.1:p.Thr1258=
XM_017010522.2:c.3711T>G	XP_016866011.1:p.Thr1237=
XM_017010523.2:c.3684T>G	XP_016866012.1:p.Thr1228=
XM_017010524.2:c.3666T>G	XP_016866013.1:p.Thr1222=
XM_017010525.2:c.3651T>G	XP_016866014.1:p.Thr1217=
XM_017010526.2:c.3639T>G	XP_016866015.1:p.Thr1213=
XM_017010527.2:c.3636T>G	XP_016866016.1:p.Thr1212=
XM_017010537.2:c.2214T>G	XP_016866026.1:p.Thr738=
XM_017010544.2:c.2058T>G	XP_016866033.1:p.Thr686=
XM_017010546.2:c.2034T>G	XP_016866035.1:p.Thr678=
XM_017010556.2:c.288T>G	XP_016866045.1:p.Thr96=
XM_017010557.2:c.120T>G	XP_016866046.1:p.Thr40=
XM_017010558.2:c.120T>G	XP_016866047.1:p.Thr40=
XM_024446369.1:c.4044T>G	XP_024302137.1:p.Thr1348=
XM_024446370.1:c.3681T>G	XP_024302138.1:p.Thr1227=
XM_024446371.1:c.3642T>G	XP_024302139.1:p.Thr1214=
XM_024446372.1:c.2211T>G	XP_024302140.1:p.Thr737=
NM_001168407.2:c.2130T>G	NP_001161879.1:p.Thr710=
NM_001168408.2:c.1741+41593T>G	NP_001161880.1:n.1741+41593T>G
NM_001168409.2:c.1570+41593T>G	NP_001161881.1:n.1570+41593T>G
NM_001168410.2:c.1768+41593T>G	NP_001161882.1:n.1768+41593T>G
NM_001350414.2:c.2091T>G	NP_001337343.1:p.Thr697=
NM_001350415.2:c.2187T>G	NP_001337344.1:p.Thr729=
NM_001350416.2:c.2136T>G	NP_001337345.1:p.Thr712=
NM_001350417.2:c.1813+41593T>G	NP_001337346.1:n.1813+41593T>G
NM_001350418.2:c.2109T>G	NP_001337347.1:p.Thr703=
NM_001350419.2:c.1585+41593T>G	NP_001337348.1:n.1585+41593T>G
NM_001350420.2:c.2244T>G	NP_001337349.1:p.Thr748=
NM_001350421.2:c.1989T>G	NP_001337350.1:p.Thr663=
NM_001350422.2:c.1810+41593T>G	NP_001337351.1:n.1810+41593T>G
NM_001350423.2:c.1878T>G	NP_001337352.1:p.Thr626=
NM_001350424.2:c.1672+41593T>G	NP_001337353.1:n.1672+41593T>G
NM_001350425.2:c.2088T>G	NP_001337354.1:p.Thr696=
NM_001350426.2:c.1660+41593T>G	NP_001337355.1:n.1660+41593T>G
NM_001350427.2:c.1738+41593T>G	NP_001337356.1:n.1738+41593T>G
NM_001350428.2:c.1744+41593T>G	NP_001337357.1:n.1744+41593T>G
NM_001350429.2:c.1908T>G	NP_001337358.1:p.Thr636=
NM_001350430.2:c.1741+41593T>G	NP_001337359.1:n.1741+41593T>G
NM_001350431.2:c.2226T>G	NP_001337360.1:p.Thr742=
NM_001350432.2:c.1648+41593T>G	NP_001337361.1:n.1648+41593T>G
NM_001350433.2:c.2217T>G	NP_001337362.1:p.Thr739=
NM_001350434.2:c.1888+41593T>G	NP_001337363.1:n.1888+41593T>G
NM_001350435.2:c.2079T>G	NP_001337364.1:p.Thr693=
NM_001350436.2:c.2322T>G	NP_001337365.1:p.Thr774=
NM_001350437.2:c.2073T>G	NP_001337366.1:p.Thr691=
NM_001350438.2:c.1993+41593T>G	NP_001337367.1:n.1993+41593T>G
NM_001350439.2:c.2061T>G	NP_001337368.1:p.Thr687=
NM_001350440.2:c.1657+41593T>G	NP_001337369.1:n.1657+41593T>G
NM_001350441.2:c.2058T>G	NP_001337370.1:p.Thr686=
NM_001350442.2:c.1996+41593T>G	NP_001337371.1:n.1996+41593T>G
NM_001350443.2:c.2031T>G	NP_001337372.1:p.Thr677=
NM_001350444.2:c.1905T>G	NP_001337373.1:p.Thr635=
NM_001350445.2:c.1894+41593T>G	NP_001337374.1:n.1894+41593T>G
NM_001350446.2:c.2316T>G	NP_001337375.1:p.Thr772=
NM_001350447.2:c.1977T>G	NP_001337376.1:p.Thr659=
NM_001350448.2:c.2133T>G	NP_001337377.1:p.Thr711=
NM_001350449.2:c.1720+41593T>G	NP_001337378.1:n.1720+41593T>G
NM_001350450.2:c.1669+41593T>G	NP_001337379.1:n.1669+41593T>G
NM_001350454.2:c.2040T>G	NP_001337383.1:p.Thr680=
NM_001350455.2:c.1588+41593T>G	NP_001337384.1:n.1588+41593T>G
NM_001350456.2:c.2313T>G	NP_001337385.1:p.Thr771=
NM_001350457.2:c.2070T>G	NP_001337386.1:p.Thr690=
NM_001350458.2:c.2139T>G	NP_001337387.1:p.Thr713=
NM_001350459.2:c.1992T>G	NP_001337388.1:p.Thr664=
NM_001350460.2:c.2010T>G	NP_001337389.1:p.Thr670=
NM_001350461.2:c.1860T>G	NP_001337390.1:p.Thr620=
NM_001350462.2:c.2175T>G	NP_001337391.1:p.Thr725=
NM_001350463.2:c.1815T>G	NP_001337392.1:p.Thr605=
NM_001350464.2:c.1818T>G	NP_001337393.1:p.Thr606=
NM_001350465.2:c.1498+41593T>G	NP_001337394.1:n.1498+41593T>G
NM_001350466.2:c.1821T>G	NP_001337395.1:p.Thr607=
NM_001350467.2:c.1737T>G	NP_001337396.1:p.Thr579=
NM_001350468.2:c.1662T>G	NP_001337397.1:p.Thr554=
NM_001350469.2:c.1890T>G	NP_001337398.1:p.Thr630=
NM_001350470.2:c.1774+41593T>G	NP_001337399.1:n.1774+41593T>G
NM_001350471.2:c.1971T>G	NP_001337400.1:p.Thr657=
NM_001350472.2:c.1693+41593T>G	NP_001337401.1:n.1693+41593T>G
NM_001350473.2:c.1696+41593T>G	NP_001337402.1:n.1696+41593T>G
NM_001350474.2:c.1863T>G	NP_001337403.1:p.Thr621=
NM_014989.7:c.4170T>G MANE Select	NP_055804.2:p.Thr1390=