Canonical Allele Identifier: CA364692715

Gene: RIMS1

Linked Data

• MyVariant Identifiers: chr6:g.73043340A>T (hg19) ; chr6:g.72333637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.72333637A>T , CM000668.2:g.72333637A>T	GRCh38
NC_000006.11:g.73043340A>T , CM000668.1:g.73043340A>T	GRCh37
NC_000006.10:g.73100061A>T	NCBI36
NG_016209.1:g.451691A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697193.1:c.3637A>T	ENSP00000513179.1:p.Thr1213Ser
ENST00000521978.6:c.4168A>T MANE Select	ENSP00000428417.1:p.Thr1390Ser
ENST00000264839.11:c.3715A>T	ENSP00000264839.7:p.Thr1239Ser
ENST00000370420.8:c.1312A>T	ENSP00000359448.4:p.Thr438Ser
ENST00000401910.7:c.2128A>T	ENSP00000385649.3:p.Thr710Ser
ENST00000425662.6:c.1570+41591A>T	ENSP00000411235.2:n.1570+41591A>T
ENST00000453976.6:c.1663A>T	ENSP00000389503.2:p.Thr555Ser
ENST00000463023.6:n.254+41591A>T
ENST00000491071.6:c.3637A>T	ENSP00000430101.1:p.Thr1213Ser
ENST00000517433.5:c.2204A>T
ENST00000517827.5:c.1768+41591A>T	ENSP00000428367.1:n.1768+41591A>T
ENST00000517960.5:c.3517A>T	ENSP00000429959.1:p.Thr1173Ser
ENST00000518273.5:c.3403+41591A>T	ENSP00000430408.1:n.3403+41591A>T
ENST00000520567.5:c.3316+41591A>T	ENSP00000430502.1:n.3316+41591A>T
ENST00000521978.5:c.4168A>T	ENSP00000428417.1:p.Thr1390Ser
ENST00000522211.5:c.921A>T
ENST00000522291.5:c.3163+41591A>T	ENSP00000430932.1:n.3163+41591A>T
ENST00000523963.5:c.1741+41591A>T	ENSP00000428328.1:n.1741+41591A>T
NM_001168407.1:c.2128A>T	NP_001161879.1:p.Thr710Ser
NM_001168408.1:c.1741+41591A>T	NP_001161880.1:n.1741+41591A>T
NM_001168409.1:c.1570+41591A>T	NP_001161881.1:n.1570+41591A>T
NM_001168410.1:c.1768+41591A>T	NP_001161882.1:n.1768+41591A>T
NM_014989.5:c.4168A>T	NP_055804.2:p.Thr1390Ser
XM_005248688.2:c.3637A>T	XP_005248745.1:p.Thr1213Ser
XM_011535602.1:c.2341A>T	XP_011533904.1:p.Thr781Ser
XM_011535603.1:c.2188A>T	XP_011533905.1:p.Thr730Ser
XM_011535604.1:c.2125A>T	XP_011533906.1:p.Thr709Ser
XM_011535605.1:c.4114A>T	XP_011533907.1:p.Thr1372Ser
XM_011535606.1:c.2086A>T	XP_011533908.1:p.Thr696Ser
XM_011535607.1:c.2068A>T	XP_011533909.1:p.Thr690Ser
XM_011535608.1:c.2005A>T	XP_011533910.1:p.Thr669Ser
XM_011535609.1:c.1936A>T	XP_011533911.1:p.Thr646Ser
XM_011535610.1:c.1933A>T	XP_011533912.1:p.Thr645Ser
XM_011535611.1:c.1900A>T	XP_011533913.1:p.Thr634Ser
XM_011535612.1:c.1810+41591A>T	XP_011533914.1:n.1810+41591A>T
XM_011535613.1:c.1738+41591A>T	XP_011533915.1:n.1738+41591A>T
XM_011535615.1:c.1735+41591A>T	XP_011533917.1:n.1735+41591A>T
XM_011535616.1:c.1720+41591A>T	XP_011533918.1:n.1720+41591A>T
XM_011535617.1:c.1582+41591A>T	XP_011533919.1:n.1582+41591A>T
XM_011535618.1:c.460A>T	XP_011533920.1:p.Thr154Ser
NM_001350414.1:c.2089A>T	NP_001337343.1:p.Thr697Ser
NM_001350415.1:c.2185A>T	NP_001337344.1:p.Thr729Ser
NM_001350416.1:c.2134A>T	NP_001337345.1:p.Thr712Ser
NM_001350417.1:c.1813+41591A>T	NP_001337346.1:n.1813+41591A>T
NM_001350418.1:c.2107A>T	NP_001337347.1:p.Thr703Ser
NM_001350419.1:c.1585+41591A>T	NP_001337348.1:n.1585+41591A>T
NM_001350420.1:c.2242A>T	NP_001337349.1:p.Thr748Ser
NM_001350421.1:c.1987A>T	NP_001337350.1:p.Thr663Ser
NM_001350422.1:c.1810+41591A>T	NP_001337351.1:n.1810+41591A>T
NM_001350423.1:c.1876A>T	NP_001337352.1:p.Thr626Ser
NM_001350424.1:c.1672+41591A>T	NP_001337353.1:n.1672+41591A>T
NM_001350425.1:c.2086A>T	NP_001337354.1:p.Thr696Ser
NM_001350426.1:c.1660+41591A>T	NP_001337355.1:n.1660+41591A>T
NM_001350427.1:c.1738+41591A>T	NP_001337356.1:n.1738+41591A>T
NM_001350428.1:c.1744+41591A>T	NP_001337357.1:n.1744+41591A>T
NM_001350429.1:c.1906A>T	NP_001337358.1:p.Thr636Ser
NM_001350430.1:c.1741+41591A>T	NP_001337359.1:n.1741+41591A>T
NM_001350431.1:c.2224A>T	NP_001337360.1:p.Thr742Ser
NM_001350432.1:c.1648+41591A>T	NP_001337361.1:n.1648+41591A>T
NM_001350433.1:c.2215A>T	NP_001337362.1:p.Thr739Ser
NM_001350434.1:c.1888+41591A>T	NP_001337363.1:n.1888+41591A>T
NM_001350435.1:c.2077A>T	NP_001337364.1:p.Thr693Ser
NM_001350436.1:c.2320A>T	NP_001337365.1:p.Thr774Ser
NM_001350437.1:c.2071A>T	NP_001337366.1:p.Thr691Ser
NM_001350438.1:c.1993+41591A>T	NP_001337367.1:n.1993+41591A>T
NM_001350439.1:c.2059A>T	NP_001337368.1:p.Thr687Ser
NM_001350440.1:c.1657+41591A>T	NP_001337369.1:n.1657+41591A>T
NM_001350441.1:c.2056A>T	NP_001337370.1:p.Thr686Ser
NM_001350442.1:c.1996+41591A>T	NP_001337371.1:n.1996+41591A>T
NM_001350443.1:c.2029A>T	NP_001337372.1:p.Thr677Ser
NM_001350444.1:c.1903A>T	NP_001337373.1:p.Thr635Ser
NM_001350445.1:c.1894+41591A>T	NP_001337374.1:n.1894+41591A>T
NM_001350446.1:c.2314A>T	NP_001337375.1:p.Thr772Ser
NM_001350447.1:c.1975A>T	NP_001337376.1:p.Thr659Ser
NM_001350448.1:c.2131A>T	NP_001337377.1:p.Thr711Ser
NM_001350449.1:c.1720+41591A>T	NP_001337378.1:n.1720+41591A>T
NM_001350450.1:c.1669+41591A>T	NP_001337379.1:n.1669+41591A>T
NM_001350454.1:c.2038A>T	NP_001337383.1:p.Thr680Ser
NM_001350455.1:c.1588+41591A>T	NP_001337384.1:n.1588+41591A>T
NM_001350456.1:c.2311A>T	NP_001337385.1:p.Thr771Ser
NM_001350457.1:c.2068A>T	NP_001337386.1:p.Thr690Ser
NM_001350458.1:c.2137A>T	NP_001337387.1:p.Thr713Ser
NM_001350459.1:c.1990A>T	NP_001337388.1:p.Thr664Ser
NM_001350460.1:c.2008A>T	NP_001337389.1:p.Thr670Ser
NM_001350461.1:c.1858A>T	NP_001337390.1:p.Thr620Ser
NM_001350462.1:c.2173A>T	NP_001337391.1:p.Thr725Ser
NM_001350463.1:c.1813A>T	NP_001337392.1:p.Thr605Ser
NM_001350464.1:c.1816A>T	NP_001337393.1:p.Thr606Ser
NM_001350465.1:c.1498+41591A>T	NP_001337394.1:n.1498+41591A>T
NM_001350466.1:c.1819A>T	NP_001337395.1:p.Thr607Ser
NM_001350467.1:c.1735A>T	NP_001337396.1:p.Thr579Ser
NM_001350468.1:c.1660A>T	NP_001337397.1:p.Thr554Ser
NM_001350469.1:c.1888A>T	NP_001337398.1:p.Thr630Ser
NM_001350470.1:c.1774+41591A>T	NP_001337399.1:n.1774+41591A>T
NM_001350471.1:c.1969A>T	NP_001337400.1:p.Thr657Ser
NM_001350472.1:c.1693+41591A>T	NP_001337401.1:n.1693+41591A>T
NM_001350473.1:c.1696+41591A>T	NP_001337402.1:n.1696+41591A>T
NM_001350474.1:c.1861A>T	NP_001337403.1:p.Thr621Ser
XM_005248688.4:c.3637A>T	XP_005248745.1:p.Thr1213Ser
XM_011535604.3:c.3706A>T	XP_011533906.2:p.Thr1236Ser
XM_017010516.2:c.3955A>T	XP_016866005.1:p.Thr1319Ser
XM_017010517.2:c.3862A>T	XP_016866006.1:p.Thr1288Ser
XM_017010518.2:c.3859A>T	XP_016866007.1:p.Thr1287Ser
XM_017010519.2:c.3802A>T	XP_016866008.1:p.Thr1268Ser
XM_017010520.2:c.3790A>T	XP_016866009.1:p.Thr1264Ser
XM_017010521.2:c.3772A>T	XP_016866010.1:p.Thr1258Ser
XM_017010522.2:c.3709A>T	XP_016866011.1:p.Thr1237Ser
XM_017010523.2:c.3682A>T	XP_016866012.1:p.Thr1228Ser
XM_017010524.2:c.3664A>T	XP_016866013.1:p.Thr1222Ser
XM_017010525.2:c.3649A>T	XP_016866014.1:p.Thr1217Ser
XM_017010526.2:c.3637A>T	XP_016866015.1:p.Thr1213Ser
XM_017010527.2:c.3634A>T	XP_016866016.1:p.Thr1212Ser
XM_017010537.2:c.2212A>T	XP_016866026.1:p.Thr738Ser
XM_017010544.2:c.2056A>T	XP_016866033.1:p.Thr686Ser
XM_017010546.2:c.2032A>T	XP_016866035.1:p.Thr678Ser
XM_017010556.2:c.286A>T	XP_016866045.1:p.Thr96Ser
XM_017010557.2:c.118A>T	XP_016866046.1:p.Thr40Ser
XM_017010558.2:c.118A>T	XP_016866047.1:p.Thr40Ser
XM_024446369.1:c.4042A>T	XP_024302137.1:p.Thr1348Ser
XM_024446370.1:c.3679A>T	XP_024302138.1:p.Thr1227Ser
XM_024446371.1:c.3640A>T	XP_024302139.1:p.Thr1214Ser
XM_024446372.1:c.2209A>T	XP_024302140.1:p.Thr737Ser
NM_001168407.2:c.2128A>T	NP_001161879.1:p.Thr710Ser
NM_001168408.2:c.1741+41591A>T	NP_001161880.1:n.1741+41591A>T
NM_001168409.2:c.1570+41591A>T	NP_001161881.1:n.1570+41591A>T
NM_001168410.2:c.1768+41591A>T	NP_001161882.1:n.1768+41591A>T
NM_001350414.2:c.2089A>T	NP_001337343.1:p.Thr697Ser
NM_001350415.2:c.2185A>T	NP_001337344.1:p.Thr729Ser
NM_001350416.2:c.2134A>T	NP_001337345.1:p.Thr712Ser
NM_001350417.2:c.1813+41591A>T	NP_001337346.1:n.1813+41591A>T
NM_001350418.2:c.2107A>T	NP_001337347.1:p.Thr703Ser
NM_001350419.2:c.1585+41591A>T	NP_001337348.1:n.1585+41591A>T
NM_001350420.2:c.2242A>T	NP_001337349.1:p.Thr748Ser
NM_001350421.2:c.1987A>T	NP_001337350.1:p.Thr663Ser
NM_001350422.2:c.1810+41591A>T	NP_001337351.1:n.1810+41591A>T
NM_001350423.2:c.1876A>T	NP_001337352.1:p.Thr626Ser
NM_001350424.2:c.1672+41591A>T	NP_001337353.1:n.1672+41591A>T
NM_001350425.2:c.2086A>T	NP_001337354.1:p.Thr696Ser
NM_001350426.2:c.1660+41591A>T	NP_001337355.1:n.1660+41591A>T
NM_001350427.2:c.1738+41591A>T	NP_001337356.1:n.1738+41591A>T
NM_001350428.2:c.1744+41591A>T	NP_001337357.1:n.1744+41591A>T
NM_001350429.2:c.1906A>T	NP_001337358.1:p.Thr636Ser
NM_001350430.2:c.1741+41591A>T	NP_001337359.1:n.1741+41591A>T
NM_001350431.2:c.2224A>T	NP_001337360.1:p.Thr742Ser
NM_001350432.2:c.1648+41591A>T	NP_001337361.1:n.1648+41591A>T
NM_001350433.2:c.2215A>T	NP_001337362.1:p.Thr739Ser
NM_001350434.2:c.1888+41591A>T	NP_001337363.1:n.1888+41591A>T
NM_001350435.2:c.2077A>T	NP_001337364.1:p.Thr693Ser
NM_001350436.2:c.2320A>T	NP_001337365.1:p.Thr774Ser
NM_001350437.2:c.2071A>T	NP_001337366.1:p.Thr691Ser
NM_001350438.2:c.1993+41591A>T	NP_001337367.1:n.1993+41591A>T
NM_001350439.2:c.2059A>T	NP_001337368.1:p.Thr687Ser
NM_001350440.2:c.1657+41591A>T	NP_001337369.1:n.1657+41591A>T
NM_001350441.2:c.2056A>T	NP_001337370.1:p.Thr686Ser
NM_001350442.2:c.1996+41591A>T	NP_001337371.1:n.1996+41591A>T
NM_001350443.2:c.2029A>T	NP_001337372.1:p.Thr677Ser
NM_001350444.2:c.1903A>T	NP_001337373.1:p.Thr635Ser
NM_001350445.2:c.1894+41591A>T	NP_001337374.1:n.1894+41591A>T
NM_001350446.2:c.2314A>T	NP_001337375.1:p.Thr772Ser
NM_001350447.2:c.1975A>T	NP_001337376.1:p.Thr659Ser
NM_001350448.2:c.2131A>T	NP_001337377.1:p.Thr711Ser
NM_001350449.2:c.1720+41591A>T	NP_001337378.1:n.1720+41591A>T
NM_001350450.2:c.1669+41591A>T	NP_001337379.1:n.1669+41591A>T
NM_001350454.2:c.2038A>T	NP_001337383.1:p.Thr680Ser
NM_001350455.2:c.1588+41591A>T	NP_001337384.1:n.1588+41591A>T
NM_001350456.2:c.2311A>T	NP_001337385.1:p.Thr771Ser
NM_001350457.2:c.2068A>T	NP_001337386.1:p.Thr690Ser
NM_001350458.2:c.2137A>T	NP_001337387.1:p.Thr713Ser
NM_001350459.2:c.1990A>T	NP_001337388.1:p.Thr664Ser
NM_001350460.2:c.2008A>T	NP_001337389.1:p.Thr670Ser
NM_001350461.2:c.1858A>T	NP_001337390.1:p.Thr620Ser
NM_001350462.2:c.2173A>T	NP_001337391.1:p.Thr725Ser
NM_001350463.2:c.1813A>T	NP_001337392.1:p.Thr605Ser
NM_001350464.2:c.1816A>T	NP_001337393.1:p.Thr606Ser
NM_001350465.2:c.1498+41591A>T	NP_001337394.1:n.1498+41591A>T
NM_001350466.2:c.1819A>T	NP_001337395.1:p.Thr607Ser
NM_001350467.2:c.1735A>T	NP_001337396.1:p.Thr579Ser
NM_001350468.2:c.1660A>T	NP_001337397.1:p.Thr554Ser
NM_001350469.2:c.1888A>T	NP_001337398.1:p.Thr630Ser
NM_001350470.2:c.1774+41591A>T	NP_001337399.1:n.1774+41591A>T
NM_001350471.2:c.1969A>T	NP_001337400.1:p.Thr657Ser
NM_001350472.2:c.1693+41591A>T	NP_001337401.1:n.1693+41591A>T
NM_001350473.2:c.1696+41591A>T	NP_001337402.1:n.1696+41591A>T
NM_001350474.2:c.1861A>T	NP_001337403.1:p.Thr621Ser
NM_014989.7:c.4168A>T MANE Select	NP_055804.2:p.Thr1390Ser