Canonical Allele Identifier: CA4050907
Community Standard Title: NM_017909.4(RMND1):c.830+1G>A
Gene: RMND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151427481C>T , CM000668.2:g.151427481C>T GRCh38
NC_000006.11:g.151748616C>T , CM000668.1:g.151748616C>T GRCh37
NC_000006.10:g.151790309C>T NCBI36
NG_033031.1:g.29701G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017909.4:c.830+1G>A MANE Select NP_060379.2:n.830+1G>A
ENST00000444024.3:c.830+1G>A MANE Select ENSP00000412708.2:n.830+1G>A
NM_001271937.1:c.320+1G>A NP_001258866.1:n.320+1G>A
NM_001271937.2:c.320+1G>A NP_001258866.1:n.320+1G>A
NM_017909.3:c.830+1G>A NP_060379.2:n.830+1G>A
ENST00000336451.7:c.197+1G>A ENSP00000336683.3:n.197+1G>A
ENST00000336451.8:c.*229+1G>A ENSP00000336683.4:n.*229+1G>A
ENST00000367303.8:c.830+1G>A ENSP00000356272.4:n.830+1G>A
ENST00000444024.1:c.320+1G>A ENSP00000412708.1:n.320+1G>A
ENST00000622845.4:c.320+1G>A ENSP00000481280.1:n.320+1G>A
ENST00000622845.5:c.320+1G>A ENSP00000481280.1:n.320+1G>A
ENST00000643550.1:n.624+1G>A
ENST00000644054.1:c.753+1G>A
ENST00000644054.2:c.*112+1G>A ENSP00000496328.2:n.*112+1G>A
ENST00000644711.1:c.830+1G>A ENSP00000494106.1:n.830+1G>A
ENST00000645367.1:n.873+2657G>A
ENST00000645895.1:n.947+1G>A
ENST00000646926.1:c.238+1G>A
ENST00000646926.2:c.830+1G>A ENSP00000494215.2:n.830+1G>A
ENST00000682004.1:n.1001+1G>A
ENST00000682299.1:c.830+1G>A ENSP00000506811.1:n.830+1G>A
ENST00000682392.1:c.830+1G>A ENSP00000508314.1:n.830+1G>A
ENST00000682641.1:c.830+1G>A ENSP00000506793.1:n.830+1G>A
ENST00000683439.1:n.975+1G>A
ENST00000683724.1:c.830+1G>A ENSP00000507984.1:n.830+1G>A
ENST00000684301.1:c.*229+1G>A ENSP00000507824.1:n.*229+1G>A
ENST00000684605.1:n.1370+1G>A
ENST00000684658.1:n.975+1G>A
ENST00000684715.1:n.975+1G>A
ENST00000684765.1:c.830+1G>A ENSP00000507910.1:n.830+1G>A
XM_005267040.2:c.197+1G>A XP_005267097.1:n.197+1G>A
XM_005267040.4:c.197+1G>A XP_005267097.1:n.197+1G>A
XM_017010988.2:c.197+1G>A XP_016866477.1:n.197+1G>A
XR_001743503.2:n.998+1G>A
XR_002956288.1:n.955+1G>A
XR_942497.1:n.1010+1G>A