Canonical Allele Identifier: CA450885909
Gene: RIMS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.73043339G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.72333636G>C , CM000668.2:g.72333636G>C GRCh38
NC_000006.11:g.73043339G>C , CM000668.1:g.73043339G>C GRCh37
NC_000006.10:g.73100060G>C NCBI36
NG_016209.1:g.451690G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697193.1:c.3636G>C ENSP00000513179.1:p.Gly1212=
ENST00000521978.6:c.4167G>C MANE Select ENSP00000428417.1:p.Gly1389=
ENST00000264839.11:c.3714G>C ENSP00000264839.7:p.Gly1238=
ENST00000370420.8:c.1311G>C ENSP00000359448.4:p.Gly437=
ENST00000401910.7:c.2127G>C ENSP00000385649.3:p.Gly709=
ENST00000425662.6:c.1570+41590G>C ENSP00000411235.2:n.1570+41590G>C
ENST00000453976.6:c.1662G>C ENSP00000389503.2:p.Gly554=
ENST00000463023.6:n.254+41590G>C
ENST00000491071.6:c.3636G>C ENSP00000430101.1:p.Gly1212=
ENST00000517433.5:c.2203G>C
ENST00000517827.5:c.1768+41590G>C ENSP00000428367.1:n.1768+41590G>C
ENST00000517960.5:c.3516G>C ENSP00000429959.1:p.Gly1172=
ENST00000518273.5:c.3403+41590G>C ENSP00000430408.1:n.3403+41590G>C
ENST00000520567.5:c.3316+41590G>C ENSP00000430502.1:n.3316+41590G>C
ENST00000521978.5:c.4167G>C ENSP00000428417.1:p.Gly1389=
ENST00000522211.5:c.920G>C
ENST00000522291.5:c.3163+41590G>C ENSP00000430932.1:n.3163+41590G>C
ENST00000523963.5:c.1741+41590G>C ENSP00000428328.1:n.1741+41590G>C
NM_001168407.1:c.2127G>C NP_001161879.1:p.Gly709=
NM_001168408.1:c.1741+41590G>C NP_001161880.1:n.1741+41590G>C
NM_001168409.1:c.1570+41590G>C NP_001161881.1:n.1570+41590G>C
NM_001168410.1:c.1768+41590G>C NP_001161882.1:n.1768+41590G>C
NM_014989.5:c.4167G>C NP_055804.2:p.Gly1389=
XM_005248688.2:c.3636G>C XP_005248745.1:p.Gly1212=
XM_011535602.1:c.2340G>C XP_011533904.1:p.Gly780=
XM_011535603.1:c.2187G>C XP_011533905.1:p.Gly729=
XM_011535604.1:c.2124G>C XP_011533906.1:p.Gly708=
XM_011535605.1:c.4113G>C XP_011533907.1:p.Gly1371=
XM_011535606.1:c.2085G>C XP_011533908.1:p.Gly695=
XM_011535607.1:c.2067G>C XP_011533909.1:p.Gly689=
XM_011535608.1:c.2004G>C XP_011533910.1:p.Gly668=
XM_011535609.1:c.1935G>C XP_011533911.1:p.Gly645=
XM_011535610.1:c.1932G>C XP_011533912.1:p.Gly644=
XM_011535611.1:c.1899G>C XP_011533913.1:p.Gly633=
XM_011535612.1:c.1810+41590G>C XP_011533914.1:n.1810+41590G>C
XM_011535613.1:c.1738+41590G>C XP_011533915.1:n.1738+41590G>C
XM_011535615.1:c.1735+41590G>C XP_011533917.1:n.1735+41590G>C
XM_011535616.1:c.1720+41590G>C XP_011533918.1:n.1720+41590G>C
XM_011535617.1:c.1582+41590G>C XP_011533919.1:n.1582+41590G>C
XM_011535618.1:c.459G>C XP_011533920.1:p.Gly153=
NM_001350414.1:c.2088G>C NP_001337343.1:p.Gly696=
NM_001350415.1:c.2184G>C NP_001337344.1:p.Gly728=
NM_001350416.1:c.2133G>C NP_001337345.1:p.Gly711=
NM_001350417.1:c.1813+41590G>C NP_001337346.1:n.1813+41590G>C
NM_001350418.1:c.2106G>C NP_001337347.1:p.Gly702=
NM_001350419.1:c.1585+41590G>C NP_001337348.1:n.1585+41590G>C
NM_001350420.1:c.2241G>C NP_001337349.1:p.Gly747=
NM_001350421.1:c.1986G>C NP_001337350.1:p.Gly662=
NM_001350422.1:c.1810+41590G>C NP_001337351.1:n.1810+41590G>C
NM_001350423.1:c.1875G>C NP_001337352.1:p.Gly625=
NM_001350424.1:c.1672+41590G>C NP_001337353.1:n.1672+41590G>C
NM_001350425.1:c.2085G>C NP_001337354.1:p.Gly695=
NM_001350426.1:c.1660+41590G>C NP_001337355.1:n.1660+41590G>C
NM_001350427.1:c.1738+41590G>C NP_001337356.1:n.1738+41590G>C
NM_001350428.1:c.1744+41590G>C NP_001337357.1:n.1744+41590G>C
NM_001350429.1:c.1905G>C NP_001337358.1:p.Gly635=
NM_001350430.1:c.1741+41590G>C NP_001337359.1:n.1741+41590G>C
NM_001350431.1:c.2223G>C NP_001337360.1:p.Gly741=
NM_001350432.1:c.1648+41590G>C NP_001337361.1:n.1648+41590G>C
NM_001350433.1:c.2214G>C NP_001337362.1:p.Gly738=
NM_001350434.1:c.1888+41590G>C NP_001337363.1:n.1888+41590G>C
NM_001350435.1:c.2076G>C NP_001337364.1:p.Gly692=
NM_001350436.1:c.2319G>C NP_001337365.1:p.Gly773=
NM_001350437.1:c.2070G>C NP_001337366.1:p.Gly690=
NM_001350438.1:c.1993+41590G>C NP_001337367.1:n.1993+41590G>C
NM_001350439.1:c.2058G>C NP_001337368.1:p.Gly686=
NM_001350440.1:c.1657+41590G>C NP_001337369.1:n.1657+41590G>C
NM_001350441.1:c.2055G>C NP_001337370.1:p.Gly685=
NM_001350442.1:c.1996+41590G>C NP_001337371.1:n.1996+41590G>C
NM_001350443.1:c.2028G>C NP_001337372.1:p.Gly676=
NM_001350444.1:c.1902G>C NP_001337373.1:p.Gly634=
NM_001350445.1:c.1894+41590G>C NP_001337374.1:n.1894+41590G>C
NM_001350446.1:c.2313G>C NP_001337375.1:p.Gly771=
NM_001350447.1:c.1974G>C NP_001337376.1:p.Gly658=
NM_001350448.1:c.2130G>C NP_001337377.1:p.Gly710=
NM_001350449.1:c.1720+41590G>C NP_001337378.1:n.1720+41590G>C
NM_001350450.1:c.1669+41590G>C NP_001337379.1:n.1669+41590G>C
NM_001350454.1:c.2037G>C NP_001337383.1:p.Gly679=
NM_001350455.1:c.1588+41590G>C NP_001337384.1:n.1588+41590G>C
NM_001350456.1:c.2310G>C NP_001337385.1:p.Gly770=
NM_001350457.1:c.2067G>C NP_001337386.1:p.Gly689=
NM_001350458.1:c.2136G>C NP_001337387.1:p.Gly712=
NM_001350459.1:c.1989G>C NP_001337388.1:p.Gly663=
NM_001350460.1:c.2007G>C NP_001337389.1:p.Gly669=
NM_001350461.1:c.1857G>C NP_001337390.1:p.Gly619=
NM_001350462.1:c.2172G>C NP_001337391.1:p.Gly724=
NM_001350463.1:c.1812G>C NP_001337392.1:p.Gly604=
NM_001350464.1:c.1815G>C NP_001337393.1:p.Gly605=
NM_001350465.1:c.1498+41590G>C NP_001337394.1:n.1498+41590G>C
NM_001350466.1:c.1818G>C NP_001337395.1:p.Gly606=
NM_001350467.1:c.1734G>C NP_001337396.1:p.Gly578=
NM_001350468.1:c.1659G>C NP_001337397.1:p.Gly553=
NM_001350469.1:c.1887G>C NP_001337398.1:p.Gly629=
NM_001350470.1:c.1774+41590G>C NP_001337399.1:n.1774+41590G>C
NM_001350471.1:c.1968G>C NP_001337400.1:p.Gly656=
NM_001350472.1:c.1693+41590G>C NP_001337401.1:n.1693+41590G>C
NM_001350473.1:c.1696+41590G>C NP_001337402.1:n.1696+41590G>C
NM_001350474.1:c.1860G>C NP_001337403.1:p.Gly620=
XM_005248688.4:c.3636G>C XP_005248745.1:p.Gly1212=
XM_011535604.3:c.3705G>C XP_011533906.2:p.Gly1235=
XM_017010516.2:c.3954G>C XP_016866005.1:p.Gly1318=
XM_017010517.2:c.3861G>C XP_016866006.1:p.Gly1287=
XM_017010518.2:c.3858G>C XP_016866007.1:p.Gly1286=
XM_017010519.2:c.3801G>C XP_016866008.1:p.Gly1267=
XM_017010520.2:c.3789G>C XP_016866009.1:p.Gly1263=
XM_017010521.2:c.3771G>C XP_016866010.1:p.Gly1257=
XM_017010522.2:c.3708G>C XP_016866011.1:p.Gly1236=
XM_017010523.2:c.3681G>C XP_016866012.1:p.Gly1227=
XM_017010524.2:c.3663G>C XP_016866013.1:p.Gly1221=
XM_017010525.2:c.3648G>C XP_016866014.1:p.Gly1216=
XM_017010526.2:c.3636G>C XP_016866015.1:p.Gly1212=
XM_017010527.2:c.3633G>C XP_016866016.1:p.Gly1211=
XM_017010537.2:c.2211G>C XP_016866026.1:p.Gly737=
XM_017010544.2:c.2055G>C XP_016866033.1:p.Gly685=
XM_017010546.2:c.2031G>C XP_016866035.1:p.Gly677=
XM_017010556.2:c.285G>C XP_016866045.1:p.Gly95=
XM_017010557.2:c.117G>C XP_016866046.1:p.Gly39=
XM_017010558.2:c.117G>C XP_016866047.1:p.Gly39=
XM_024446369.1:c.4041G>C XP_024302137.1:p.Gly1347=
XM_024446370.1:c.3678G>C XP_024302138.1:p.Gly1226=
XM_024446371.1:c.3639G>C XP_024302139.1:p.Gly1213=
XM_024446372.1:c.2208G>C XP_024302140.1:p.Gly736=
NM_001168407.2:c.2127G>C NP_001161879.1:p.Gly709=
NM_001168408.2:c.1741+41590G>C NP_001161880.1:n.1741+41590G>C
NM_001168409.2:c.1570+41590G>C NP_001161881.1:n.1570+41590G>C
NM_001168410.2:c.1768+41590G>C NP_001161882.1:n.1768+41590G>C
NM_001350414.2:c.2088G>C NP_001337343.1:p.Gly696=
NM_001350415.2:c.2184G>C NP_001337344.1:p.Gly728=
NM_001350416.2:c.2133G>C NP_001337345.1:p.Gly711=
NM_001350417.2:c.1813+41590G>C NP_001337346.1:n.1813+41590G>C
NM_001350418.2:c.2106G>C NP_001337347.1:p.Gly702=
NM_001350419.2:c.1585+41590G>C NP_001337348.1:n.1585+41590G>C
NM_001350420.2:c.2241G>C NP_001337349.1:p.Gly747=
NM_001350421.2:c.1986G>C NP_001337350.1:p.Gly662=
NM_001350422.2:c.1810+41590G>C NP_001337351.1:n.1810+41590G>C
NM_001350423.2:c.1875G>C NP_001337352.1:p.Gly625=
NM_001350424.2:c.1672+41590G>C NP_001337353.1:n.1672+41590G>C
NM_001350425.2:c.2085G>C NP_001337354.1:p.Gly695=
NM_001350426.2:c.1660+41590G>C NP_001337355.1:n.1660+41590G>C
NM_001350427.2:c.1738+41590G>C NP_001337356.1:n.1738+41590G>C
NM_001350428.2:c.1744+41590G>C NP_001337357.1:n.1744+41590G>C
NM_001350429.2:c.1905G>C NP_001337358.1:p.Gly635=
NM_001350430.2:c.1741+41590G>C NP_001337359.1:n.1741+41590G>C
NM_001350431.2:c.2223G>C NP_001337360.1:p.Gly741=
NM_001350432.2:c.1648+41590G>C NP_001337361.1:n.1648+41590G>C
NM_001350433.2:c.2214G>C NP_001337362.1:p.Gly738=
NM_001350434.2:c.1888+41590G>C NP_001337363.1:n.1888+41590G>C
NM_001350435.2:c.2076G>C NP_001337364.1:p.Gly692=
NM_001350436.2:c.2319G>C NP_001337365.1:p.Gly773=
NM_001350437.2:c.2070G>C NP_001337366.1:p.Gly690=
NM_001350438.2:c.1993+41590G>C NP_001337367.1:n.1993+41590G>C
NM_001350439.2:c.2058G>C NP_001337368.1:p.Gly686=
NM_001350440.2:c.1657+41590G>C NP_001337369.1:n.1657+41590G>C
NM_001350441.2:c.2055G>C NP_001337370.1:p.Gly685=
NM_001350442.2:c.1996+41590G>C NP_001337371.1:n.1996+41590G>C
NM_001350443.2:c.2028G>C NP_001337372.1:p.Gly676=
NM_001350444.2:c.1902G>C NP_001337373.1:p.Gly634=
NM_001350445.2:c.1894+41590G>C NP_001337374.1:n.1894+41590G>C
NM_001350446.2:c.2313G>C NP_001337375.1:p.Gly771=
NM_001350447.2:c.1974G>C NP_001337376.1:p.Gly658=
NM_001350448.2:c.2130G>C NP_001337377.1:p.Gly710=
NM_001350449.2:c.1720+41590G>C NP_001337378.1:n.1720+41590G>C
NM_001350450.2:c.1669+41590G>C NP_001337379.1:n.1669+41590G>C
NM_001350454.2:c.2037G>C NP_001337383.1:p.Gly679=
NM_001350455.2:c.1588+41590G>C NP_001337384.1:n.1588+41590G>C
NM_001350456.2:c.2310G>C NP_001337385.1:p.Gly770=
NM_001350457.2:c.2067G>C NP_001337386.1:p.Gly689=
NM_001350458.2:c.2136G>C NP_001337387.1:p.Gly712=
NM_001350459.2:c.1989G>C NP_001337388.1:p.Gly663=
NM_001350460.2:c.2007G>C NP_001337389.1:p.Gly669=
NM_001350461.2:c.1857G>C NP_001337390.1:p.Gly619=
NM_001350462.2:c.2172G>C NP_001337391.1:p.Gly724=
NM_001350463.2:c.1812G>C NP_001337392.1:p.Gly604=
NM_001350464.2:c.1815G>C NP_001337393.1:p.Gly605=
NM_001350465.2:c.1498+41590G>C NP_001337394.1:n.1498+41590G>C
NM_001350466.2:c.1818G>C NP_001337395.1:p.Gly606=
NM_001350467.2:c.1734G>C NP_001337396.1:p.Gly578=
NM_001350468.2:c.1659G>C NP_001337397.1:p.Gly553=
NM_001350469.2:c.1887G>C NP_001337398.1:p.Gly629=
NM_001350470.2:c.1774+41590G>C NP_001337399.1:n.1774+41590G>C
NM_001350471.2:c.1968G>C NP_001337400.1:p.Gly656=
NM_001350472.2:c.1693+41590G>C NP_001337401.1:n.1693+41590G>C
NM_001350473.2:c.1696+41590G>C NP_001337402.1:n.1696+41590G>C
NM_001350474.2:c.1860G>C NP_001337403.1:p.Gly620=
NM_014989.7:c.4167G>C MANE Select NP_055804.2:p.Gly1389=