Canonical Allele Identifier: CA366057797

Gene: RMND1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151417383T>G , CM000668.2:g.151417383T>G	GRCh38
NC_000006.11:g.151738518T>G , CM000668.1:g.151738518T>G	GRCh37
NC_000006.10:g.151780211T>G	NCBI36
NG_033031.1:g.39799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.*378A>C	ENSP00000496328.2:n.*378A>C
ENST00000646926.2:c.*56A>C	ENSP00000494215.2:n.*56A>C
ENST00000682004.1:n.2486A>C
ENST00000682299.1:c.1002+5158A>C	ENSP00000506811.1:n.1002+5158A>C
ENST00000682392.1:c.1096A>C	ENSP00000508314.1:p.Ser366Arg
ENST00000682641.1:c.1096A>C	ENSP00000506793.1:p.Ser366Arg
ENST00000683439.1:n.3379A>C
ENST00000683724.1:c.1096A>C	ENSP00000507984.1:p.Ser366Arg
ENST00000684301.1:c.*495A>C	ENSP00000507824.1:n.*495A>C
ENST00000684605.1:n.1636A>C
ENST00000684658.1:n.1241A>C
ENST00000684715.1:n.1241A>C
ENST00000684765.1:c.*24A>C	ENSP00000507910.1:n.*24A>C
ENST00000336451.8:c.*495A>C	ENSP00000336683.4:n.*495A>C
ENST00000444024.3:c.1096A>C MANE Select	ENSP00000412708.2:p.Ser366Arg
ENST00000622845.5:c.586A>C	ENSP00000481280.1:p.Ser196Arg
ENST00000644054.1:c.1019A>C
ENST00000644711.1:c.1096A>C	ENSP00000494106.1:p.Ser366Arg
ENST00000645895.1:n.1260A>C
ENST00000646926.1:c.439A>C
ENST00000336451.7:c.463A>C	ENSP00000336683.3:p.Ser155Arg
ENST00000367303.8:c.1096A>C	ENSP00000356272.4:p.Ser366Arg
ENST00000444024.1:c.586A>C	ENSP00000412708.1:p.Ser196Arg
ENST00000622845.4:c.586A>C	ENSP00000481280.1:p.Ser196Arg
NM_001271937.1:c.586A>C	NP_001258866.1:p.Ser196Arg
NM_017909.3:c.1096A>C	NP_060379.2:p.Ser366Arg
XM_005267040.2:c.463A>C	XP_005267097.1:p.Ser155Arg
XR_942497.1:n.1276A>C
XM_005267040.4:c.463A>C	XP_005267097.1:p.Ser155Arg
XM_017010988.2:c.463A>C	XP_016866477.1:p.Ser155Arg
XR_001743503.2:n.1264A>C
XR_002956288.1:n.1221A>C
NM_017909.4:c.1096A>C MANE Select	NP_060379.2:p.Ser366Arg
NM_001271937.2:c.586A>C	NP_001258866.1:p.Ser196Arg