Canonical Allele Identifier: CA366059234

Gene: RMND1

Linked Data

• MyVariant Identifiers: chr6:g.151742383A>T (hg19) ; chr6:g.151421248A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151421248A>T , CM000668.2:g.151421248A>T	GRCh38
NC_000006.11:g.151742383A>T , CM000668.1:g.151742383A>T	GRCh37
NC_000006.10:g.151784076A>T	NCBI36
NG_033031.1:g.35934T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644054.2:c.*358T>A	ENSP00000496328.2:n.*358T>A
ENST00000646926.2:c.*36T>A	ENSP00000494215.2:n.*36T>A
ENST00000682004.1:n.2466T>A
ENST00000682299.1:c.1002+1293T>A	ENSP00000506811.1:n.1002+1293T>A
ENST00000682392.1:c.1076T>A	ENSP00000508314.1:p.Leu359Gln
ENST00000682641.1:c.1076T>A	ENSP00000506793.1:p.Leu359Gln
ENST00000683439.1:n.3359T>A
ENST00000683724.1:c.1076T>A	ENSP00000507984.1:p.Leu359Gln
ENST00000684301.1:c.*475T>A	ENSP00000507824.1:n.*475T>A
ENST00000684605.1:n.1616T>A
ENST00000684658.1:n.1221T>A
ENST00000684715.1:n.1221T>A
ENST00000684765.1:c.1076T>A	ENSP00000507910.1:p.Leu359Gln
ENST00000336451.8:c.*475T>A	ENSP00000336683.4:n.*475T>A
ENST00000444024.3:c.1076T>A MANE Select	ENSP00000412708.2:p.Leu359Gln
ENST00000622845.5:c.566T>A	ENSP00000481280.1:p.Leu189Gln
ENST00000644054.1:c.999T>A
ENST00000644711.1:c.1076T>A	ENSP00000494106.1:p.Leu359Gln
ENST00000645367.1:n.1054T>A
ENST00000645895.1:n.1193T>A
ENST00000646926.1:c.419T>A
ENST00000336451.7:c.443T>A	ENSP00000336683.3:p.Leu148Gln
ENST00000367303.8:c.1076T>A	ENSP00000356272.4:p.Leu359Gln
ENST00000444024.1:c.566T>A	ENSP00000412708.1:p.Leu189Gln
ENST00000622845.4:c.566T>A	ENSP00000481280.1:p.Leu189Gln
NM_001271937.1:c.566T>A	NP_001258866.1:p.Leu189Gln
NM_017909.3:c.1076T>A	NP_060379.2:p.Leu359Gln
XM_005267040.2:c.443T>A	XP_005267097.1:p.Leu148Gln
XR_942497.1:n.1256T>A
XM_005267040.4:c.443T>A	XP_005267097.1:p.Leu148Gln
XM_017010988.2:c.443T>A	XP_016866477.1:p.Leu148Gln
XR_001743503.2:n.1244T>A
XR_002956288.1:n.1201T>A
NM_017909.4:c.1076T>A MANE Select	NP_060379.2:p.Leu359Gln
NM_001271937.2:c.566T>A	NP_001258866.1:p.Leu189Gln