Canonical Allele Identifier: CA15466699
Gene: RIMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.72197050A>G , CM000668.2:g.72197050A>G GRCh38
NC_000006.11:g.72906753A>G , CM000668.1:g.72906753A>G GRCh37
NC_000006.10:g.72963474A>G NCBI36
NG_016209.1:g.315104A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697193.1:c.1678+13901A>G ENSP00000513179.1:n.1678+13901A>G
ENST00000521978.6:c.1678+13901A>G MANE Select ENSP00000428417.1:n.1678+13901A>G
ENST00000264839.11:c.1678+13901A>G ENSP00000264839.7:n.1678+13901A>G
ENST00000370419.6:n.1999+13901A>G
ENST00000491071.6:c.1678+13901A>G ENSP00000430101.1:n.1678+13901A>G
ENST00000517433.5:c.398+13901A>G
ENST00000517960.5:c.1678+13901A>G ENSP00000429959.1:n.1678+13901A>G
ENST00000518273.5:c.1678+13901A>G ENSP00000430408.1:n.1678+13901A>G
ENST00000520567.5:c.1678+13901A>G ENSP00000430502.1:n.1678+13901A>G
ENST00000521978.5:c.1678+13901A>G ENSP00000428417.1:n.1678+13901A>G
ENST00000522291.5:c.1678+13901A>G ENSP00000430932.1:n.1678+13901A>G
NM_014989.5:c.1678+13901A>G NP_055804.2:n.1678+13901A>G
XM_005248688.2:c.1678+13901A>G XP_005248745.1:n.1678+13901A>G
XM_011535602.1:c.97+13901A>G XP_011533904.1:n.97+13901A>G
XM_011535603.1:c.97+13901A>G XP_011533905.1:n.97+13901A>G
XM_011535604.1:c.97+13901A>G XP_011533906.1:n.97+13901A>G
XM_011535605.1:c.1678+13901A>G XP_011533907.1:n.1678+13901A>G
XM_011535606.1:c.97+13901A>G XP_011533908.1:n.97+13901A>G
XM_011535607.1:c.97+13901A>G XP_011533909.1:n.97+13901A>G
XM_011535608.1:c.97+13901A>G XP_011533910.1:n.97+13901A>G
XM_011535609.1:c.97+13901A>G XP_011533911.1:n.97+13901A>G
XM_011535610.1:c.97+13901A>G XP_011533912.1:n.97+13901A>G
XM_011535611.1:c.97+13901A>G XP_011533913.1:n.97+13901A>G
XM_011535612.1:c.97+13901A>G XP_011533914.1:n.97+13901A>G
XM_011535613.1:c.97+13901A>G XP_011533915.1:n.97+13901A>G
XM_011535615.1:c.97+13901A>G XP_011533917.1:n.97+13901A>G
XM_011535616.1:c.97+13901A>G XP_011533918.1:n.97+13901A>G
XM_011535617.1:c.97+13901A>G XP_011533919.1:n.97+13901A>G
XM_005248688.4:c.1678+13901A>G XP_005248745.1:n.1678+13901A>G
XM_011535604.3:c.1678+13901A>G XP_011533906.2:n.1678+13901A>G
XM_017010516.2:c.1678+13901A>G XP_016866005.1:n.1678+13901A>G
XM_017010517.2:c.1678+13901A>G XP_016866006.1:n.1678+13901A>G
XM_017010518.2:c.1678+13901A>G XP_016866007.1:n.1678+13901A>G
XM_017010519.2:c.1678+13901A>G XP_016866008.1:n.1678+13901A>G
XM_017010520.2:c.1678+13901A>G XP_016866009.1:n.1678+13901A>G
XM_017010521.2:c.1678+13901A>G XP_016866010.1:n.1678+13901A>G
XM_017010522.2:c.1678+13901A>G XP_016866011.1:n.1678+13901A>G
XM_017010523.2:c.1678+13901A>G XP_016866012.1:n.1678+13901A>G
XM_017010524.2:c.1678+13901A>G XP_016866013.1:n.1678+13901A>G
XM_017010525.2:c.1678+13901A>G XP_016866014.1:n.1678+13901A>G
XM_017010526.2:c.1678+13901A>G XP_016866015.1:n.1678+13901A>G
XM_017010527.2:c.1678+13901A>G XP_016866016.1:n.1678+13901A>G
XM_024446369.1:c.1678+13901A>G XP_024302137.1:n.1678+13901A>G
XM_024446370.1:c.1678+13901A>G XP_024302138.1:n.1678+13901A>G
XM_024446371.1:c.1678+13901A>G XP_024302139.1:n.1678+13901A>G
NM_014989.7:c.1678+13901A>G MANE Select NP_055804.2:n.1678+13901A>G