Canonical Allele Identifier: CA412111556

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50083100C>T , CM000684.2:g.50083100C>T	GRCh38
NC_000022.10:g.50521529C>T , CM000684.1:g.50521529C>T	GRCh37
NC_000022.9:g.48863656C>T	NCBI36
NG_009162.1:g.7830G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.251G>A MANE Select	NP_055981.1:p.Arg84His
ENST00000311597.10:c.251G>A MANE Select	ENSP00000310375.6:p.Arg84His
NM_001376472.1:c.251G>A	NP_001363401.1:p.Arg84His
NM_001376473.1:c.251G>A	NP_001363402.1:p.Arg84His
NM_001376474.1:c.251G>A	NP_001363403.1:p.Arg84His
NM_001376475.1:c.251G>A	NP_001363404.1:p.Arg84His
NM_001376476.1:c.251G>A	NP_001363405.1:p.Arg84His
NM_001376477.1:c.251G>A	NP_001363406.1:p.Arg84His
NM_001376478.1:c.251G>A	NP_001363407.1:p.Arg84His
NM_001376479.1:c.251G>A	NP_001363408.1:p.Arg84His
NM_001376480.1:c.177+1626G>A	NP_001363409.1:n.177+1626G>A
NM_001376481.1:c.251G>A	NP_001363410.1:p.Arg84His
NM_001376482.1:c.251G>A	NP_001363411.1:p.Arg84His
NM_001376483.1:c.251G>A	NP_001363412.1:p.Arg84His
NM_001376484.1:c.14G>A	NP_001363413.1:p.Arg5His
NM_015166.3:c.251G>A	NP_055981.1:p.Arg84His
NM_139202.2:c.251G>A	NP_631941.1:p.Arg84His
NM_139202.3:c.251G>A	NP_631941.1:p.Arg84His
NR_164811.1:n.598G>A
NR_164812.1:n.382G>A
NR_164813.1:n.775G>A
ENST00000311597.9:c.251G>A	ENSP00000310375.5:p.Arg84His
ENST00000395876.6:c.251G>A	ENSP00000379216.2:p.Arg84His
ENST00000442311.1:c.177+1626G>A	ENSP00000401385.1:n.177+1626G>A
XM_011530678.1:c.251G>A	XP_011528980.1:p.Arg84His
XM_011530678.2:c.251G>A	XP_011528980.1:p.Arg84His
XM_017028671.1:c.251G>A	XP_016884160.1:p.Arg84His
XR_001755180.2:n.756G>A
XR_001755181.2:n.524G>A
XR_430476.2:n.646G>A