Canonical Allele Identifier: CA366059222

Gene: RMND1

Linked Data

• MyVariant Identifiers: chr6:g.151742380C>A (hg19) ; chr6:g.151421245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151421245C>A , CM000668.2:g.151421245C>A	GRCh38
NC_000006.11:g.151742380C>A , CM000668.1:g.151742380C>A	GRCh37
NC_000006.10:g.151784073C>A	NCBI36
NG_033031.1:g.35937G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644054.2:c.*361G>T	ENSP00000496328.2:n.*361G>T
ENST00000646926.2:c.*39G>T	ENSP00000494215.2:n.*39G>T
ENST00000682004.1:n.2469G>T
ENST00000682299.1:c.1002+1296G>T	ENSP00000506811.1:n.1002+1296G>T
ENST00000682392.1:c.1079G>T	ENSP00000508314.1:p.Arg360Met
ENST00000682641.1:c.1079G>T	ENSP00000506793.1:p.Arg360Met
ENST00000683439.1:n.3362G>T
ENST00000683724.1:c.1079G>T	ENSP00000507984.1:p.Arg360Met
ENST00000684301.1:c.*478G>T	ENSP00000507824.1:n.*478G>T
ENST00000684605.1:n.1619G>T
ENST00000684658.1:n.1224G>T
ENST00000684715.1:n.1224G>T
ENST00000684765.1:c.1079G>T	ENSP00000507910.1:p.Arg360Met
ENST00000336451.8:c.*478G>T	ENSP00000336683.4:n.*478G>T
ENST00000444024.3:c.1079G>T MANE Select	ENSP00000412708.2:p.Arg360Met
ENST00000622845.5:c.569G>T	ENSP00000481280.1:p.Arg190Met
ENST00000644054.1:c.1002G>T
ENST00000644711.1:c.1079G>T	ENSP00000494106.1:p.Arg360Met
ENST00000645367.1:n.1057G>T
ENST00000645895.1:n.1196G>T
ENST00000646926.1:c.422G>T
ENST00000336451.7:c.446G>T	ENSP00000336683.3:p.Arg149Met
ENST00000367303.8:c.1079G>T	ENSP00000356272.4:p.Arg360Met
ENST00000444024.1:c.569G>T	ENSP00000412708.1:p.Arg190Met
ENST00000622845.4:c.569G>T	ENSP00000481280.1:p.Arg190Met
NM_001271937.1:c.569G>T	NP_001258866.1:p.Arg190Met
NM_017909.3:c.1079G>T	NP_060379.2:p.Arg360Met
XM_005267040.2:c.446G>T	XP_005267097.1:p.Arg149Met
XR_942497.1:n.1259G>T
XM_005267040.4:c.446G>T	XP_005267097.1:p.Arg149Met
XM_017010988.2:c.446G>T	XP_016866477.1:p.Arg149Met
XR_001743503.2:n.1247G>T
XR_002956288.1:n.1204G>T
NM_017909.4:c.1079G>T MANE Select	NP_060379.2:p.Arg360Met
NM_001271937.2:c.569G>T	NP_001258866.1:p.Arg190Met