Canonical Allele Identifier: CA366060618

Gene: RMND1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151423563A>G , CM000668.2:g.151423563A>G	GRCh38
NC_000006.11:g.151744698A>G , CM000668.1:g.151744698A>G	GRCh37
NC_000006.10:g.151786391A>G	NCBI36
NG_033031.1:g.33619T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.*181T>C	ENSP00000496328.2:n.*181T>C
ENST00000646926.2:c.899T>C	ENSP00000494215.2:p.Leu300Pro
ENST00000682004.1:n.1070T>C
ENST00000682299.1:c.899T>C	ENSP00000506811.1:p.Leu300Pro
ENST00000682392.1:c.899T>C	ENSP00000508314.1:p.Leu300Pro
ENST00000682641.1:c.899T>C	ENSP00000506793.1:p.Leu300Pro
ENST00000683439.1:n.1044T>C
ENST00000683724.1:c.899T>C	ENSP00000507984.1:p.Leu300Pro
ENST00000684301.1:c.*298T>C	ENSP00000507824.1:n.*298T>C
ENST00000684605.1:n.1439T>C
ENST00000684658.1:n.1044T>C
ENST00000684715.1:n.1044T>C
ENST00000684765.1:c.899T>C	ENSP00000507910.1:p.Leu300Pro
ENST00000336451.8:c.*298T>C	ENSP00000336683.4:n.*298T>C
ENST00000444024.3:c.899T>C MANE Select	ENSP00000412708.2:p.Leu300Pro
ENST00000622845.5:c.389T>C	ENSP00000481280.1:p.Leu130Pro
ENST00000643550.1:n.693T>C
ENST00000644054.1:c.822T>C
ENST00000644711.1:c.899T>C	ENSP00000494106.1:p.Leu300Pro
ENST00000645367.1:n.942T>C
ENST00000645895.1:n.1016T>C
ENST00000646926.1:c.307T>C
ENST00000336451.7:c.266T>C	ENSP00000336683.3:p.Leu89Pro
ENST00000367303.8:c.899T>C	ENSP00000356272.4:p.Leu300Pro
ENST00000444024.1:c.389T>C	ENSP00000412708.1:p.Leu130Pro
ENST00000622845.4:c.389T>C	ENSP00000481280.1:p.Leu130Pro
NM_001271937.1:c.389T>C	NP_001258866.1:p.Leu130Pro
NM_017909.3:c.899T>C	NP_060379.2:p.Leu300Pro
XM_005267040.2:c.266T>C	XP_005267097.1:p.Leu89Pro
XR_942497.1:n.1079T>C
XM_005267040.4:c.266T>C	XP_005267097.1:p.Leu89Pro
XM_017010988.2:c.266T>C	XP_016866477.1:p.Leu89Pro
XR_001743503.2:n.1067T>C
XR_002956288.1:n.1024T>C
NM_017909.4:c.899T>C MANE Select	NP_060379.2:p.Leu300Pro
NM_001271937.2:c.389T>C	NP_001258866.1:p.Leu130Pro