Canonical Allele Identifier: CA412107693

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068494T>C , CM000684.2:g.50068494T>C	GRCh38
NC_000022.10:g.50506923T>C , CM000684.1:g.50506923T>C	GRCh37
NC_000022.9:g.48849050T>C	NCBI36
NG_009162.1:g.22436A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.833A>G MANE Select	NP_055981.1:p.Tyr278Cys
ENST00000311597.10:c.833A>G MANE Select	ENSP00000310375.6:p.Tyr278Cys
NM_001376472.1:c.833A>G	NP_001363401.1:p.Tyr278Cys
NM_001376473.1:c.833A>G	NP_001363402.1:p.Tyr278Cys
NM_001376474.1:c.833A>G	NP_001363403.1:p.Tyr278Cys
NM_001376475.1:c.833A>G	NP_001363404.1:p.Tyr278Cys
NM_001376476.1:c.833A>G	NP_001363405.1:p.Tyr278Cys
NM_001376477.1:c.833A>G	NP_001363406.1:p.Tyr278Cys
NM_001376478.1:c.833A>G	NP_001363407.1:p.Tyr278Cys
NM_001376479.1:c.776A>G	NP_001363408.1:p.Tyr259Cys
NM_001376480.1:c.743A>G	NP_001363409.1:p.Tyr248Cys
NM_001376481.1:c.731A>G	NP_001363410.1:p.Tyr244Cys
NM_001376482.1:c.677A>G	NP_001363411.1:p.Tyr226Cys
NM_001376483.1:c.677A>G	NP_001363412.1:p.Tyr226Cys
NM_001376484.1:c.596A>G	NP_001363413.1:p.Tyr199Cys
NM_015166.3:c.833A>G	NP_055981.1:p.Tyr278Cys
NM_139202.2:c.833A>G	NP_631941.1:p.Tyr278Cys
NM_139202.3:c.833A>G	NP_631941.1:p.Tyr278Cys
NR_164811.1:n.1180A>G
NR_164812.1:n.964A>G
NR_164813.1:n.1357A>G
ENST00000311597.9:c.833A>G	ENSP00000310375.5:p.Tyr278Cys
ENST00000395876.6:c.833A>G	ENSP00000379216.2:p.Tyr278Cys
ENST00000483836.1:n.190A>G
XM_011530678.1:c.833A>G	XP_011528980.1:p.Tyr278Cys
XM_011530678.2:c.833A>G	XP_011528980.1:p.Tyr278Cys
XM_017028671.1:c.833A>G	XP_016884160.1:p.Tyr278Cys
XR_001755180.2:n.1338A>G
XR_001755181.2:n.1106A>G
XR_430476.2:n.1228A>G