Canonical Allele Identifier: CA2832577030

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084772_50084773dup , CM000684.2:g.50084772_50084773dup	GRCh38
NC_000022.10:g.50523201_50523202dup , CM000684.1:g.50523201_50523202dup	GRCh37
NC_000022.9:g.48865328_48865329dup	NCBI36
NG_009162.1:g.6161_6162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.134_135dup MANE Select	ENSP00000310375.6:p.Cys46ProfsTer13
ENST00000311597.9:c.134_135dup	ENSP00000310375.5:p.Cys46ProfsTer13
ENST00000395876.6:c.134_135dup	ENSP00000379216.2:p.Cys46ProfsTer13
ENST00000442311.1:c.134_135dup	ENSP00000401385.1:p.Cys46ProfsTer13
NM_015166.3:c.134_135dup	NP_055981.1:p.Cys46ProfsTer13
NM_139202.2:c.134_135dup	NP_631941.1:p.Cys46ProfsTer13
XM_011530678.1:c.134_135dup	XP_011528980.1:p.Cys46ProfsTer13
XR_430476.2:n.529_530dup
XM_011530678.2:c.134_135dup	XP_011528980.1:p.Cys46ProfsTer13
XM_017028671.1:c.134_135dup	XP_016884160.1:p.Cys46ProfsTer13
XR_001755180.2:n.639_640dup
XR_001755181.2:n.407_408dup
NM_001376472.1:c.134_135dup	NP_001363401.1:p.Cys46ProfsTer13
NM_001376473.1:c.134_135dup	NP_001363402.1:p.Cys46ProfsTer13
NM_001376474.1:c.134_135dup	NP_001363403.1:p.Cys46ProfsTer13
NM_001376475.1:c.134_135dup	NP_001363404.1:p.Cys46ProfsTer13
NM_001376476.1:c.134_135dup	NP_001363405.1:p.Cys46ProfsTer13
NM_001376477.1:c.134_135dup	NP_001363406.1:p.Cys46ProfsTer13
NM_001376478.1:c.134_135dup	NP_001363407.1:p.Cys46ProfsTer13
NM_001376479.1:c.134_135dup	NP_001363408.1:p.Cys46ProfsTer13
NM_001376480.1:c.134_135dup	NP_001363409.1:p.Cys46ProfsTer13
NM_001376481.1:c.134_135dup	NP_001363410.1:p.Cys46ProfsTer13
NM_001376482.1:c.134_135dup	NP_001363411.1:p.Cys46ProfsTer13
NM_001376483.1:c.134_135dup	NP_001363412.1:p.Cys46ProfsTer13
NM_001376484.1:c.-59+586_-59+587dup	NP_001363413.1:n.-59+586_-59+587dup
NM_015166.4:c.134_135dup MANE Select	NP_055981.1:p.Cys46ProfsTer13
NM_139202.3:c.134_135dup	NP_631941.1:p.Cys46ProfsTer13
NR_164811.1:n.481_482dup
NR_164812.1:n.265_266dup
NR_164813.1:n.658_659dup