Canonical Allele Identifier: CA452736137

Gene: RMND1

Linked Data

• gnomAD v4: 6-151421249-G-A
• MyVariant Identifiers: chr6:g.151742384G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151421249G>A , CM000668.2:g.151421249G>A	GRCh38
NC_000006.11:g.151742384G>A , CM000668.1:g.151742384G>A	GRCh37
NC_000006.10:g.151784077G>A	NCBI36
NG_033031.1:g.35933C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644054.2:c.*357C>T	ENSP00000496328.2:n.*357C>T
ENST00000646926.2:c.*35C>T	ENSP00000494215.2:n.*35C>T
ENST00000682004.1:n.2465C>T
ENST00000682299.1:c.1002+1292C>T	ENSP00000506811.1:n.1002+1292C>T
ENST00000682392.1:c.1075C>T	ENSP00000508314.1:p.Leu359=
ENST00000682641.1:c.1075C>T	ENSP00000506793.1:p.Leu359=
ENST00000683439.1:n.3358C>T
ENST00000683724.1:c.1075C>T	ENSP00000507984.1:p.Leu359=
ENST00000684301.1:c.*474C>T	ENSP00000507824.1:n.*474C>T
ENST00000684605.1:n.1615C>T
ENST00000684658.1:n.1220C>T
ENST00000684715.1:n.1220C>T
ENST00000684765.1:c.1075C>T	ENSP00000507910.1:p.Leu359=
ENST00000336451.8:c.*474C>T	ENSP00000336683.4:n.*474C>T
ENST00000444024.3:c.1075C>T MANE Select	ENSP00000412708.2:p.Leu359=
ENST00000622845.5:c.565C>T	ENSP00000481280.1:p.Leu189=
ENST00000644054.1:c.998C>T
ENST00000644711.1:c.1075C>T	ENSP00000494106.1:p.Leu359=
ENST00000645367.1:n.1053C>T
ENST00000645895.1:n.1192C>T
ENST00000646926.1:c.418C>T
ENST00000336451.7:c.442C>T	ENSP00000336683.3:p.Leu148=
ENST00000367303.8:c.1075C>T	ENSP00000356272.4:p.Leu359=
ENST00000444024.1:c.565C>T	ENSP00000412708.1:p.Leu189=
ENST00000622845.4:c.565C>T	ENSP00000481280.1:p.Leu189=
NM_001271937.1:c.565C>T	NP_001258866.1:p.Leu189=
NM_017909.3:c.1075C>T	NP_060379.2:p.Leu359=
XM_005267040.2:c.442C>T	XP_005267097.1:p.Leu148=
XR_942497.1:n.1255C>T
XM_005267040.4:c.442C>T	XP_005267097.1:p.Leu148=
XM_017010988.2:c.442C>T	XP_016866477.1:p.Leu148=
XR_001743503.2:n.1243C>T
XR_002956288.1:n.1200C>T
NM_017909.4:c.1075C>T MANE Select	NP_060379.2:p.Leu359=
NM_001271937.2:c.565C>T	NP_001258866.1:p.Leu189=