Canonical Allele Identifier: CA10303354

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068529G>C , CM000684.2:g.50068529G>C	GRCh38
NC_000022.10:g.50506958G>C , CM000684.1:g.50506958G>C	GRCh37
NC_000022.9:g.48849085G>C	NCBI36
NG_009162.1:g.22401C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.798C>G MANE Select	NP_055981.1:p.Ser266Arg
ENST00000311597.10:c.798C>G MANE Select	ENSP00000310375.6:p.Ser266Arg
NM_001376472.1:c.798C>G	NP_001363401.1:p.Ser266Arg
NM_001376473.1:c.798C>G	NP_001363402.1:p.Ser266Arg
NM_001376474.1:c.798C>G	NP_001363403.1:p.Ser266Arg
NM_001376475.1:c.798C>G	NP_001363404.1:p.Ser266Arg
NM_001376476.1:c.798C>G	NP_001363405.1:p.Ser266Arg
NM_001376477.1:c.798C>G	NP_001363406.1:p.Ser266Arg
NM_001376478.1:c.798C>G	NP_001363407.1:p.Ser266Arg
NM_001376479.1:c.741C>G	NP_001363408.1:p.Ser247Arg
NM_001376480.1:c.708C>G	NP_001363409.1:p.Ser236Arg
NM_001376481.1:c.696C>G	NP_001363410.1:p.Ser232Arg
NM_001376482.1:c.642C>G	NP_001363411.1:p.Ser214Arg
NM_001376483.1:c.642C>G	NP_001363412.1:p.Ser214Arg
NM_001376484.1:c.561C>G	NP_001363413.1:p.Ser187Arg
NM_015166.3:c.798C>G	NP_055981.1:p.Ser266Arg
NM_139202.2:c.798C>G	NP_631941.1:p.Ser266Arg
NM_139202.3:c.798C>G	NP_631941.1:p.Ser266Arg
NR_164811.1:n.1145C>G
NR_164812.1:n.929C>G
NR_164813.1:n.1322C>G
ENST00000311597.9:c.798C>G	ENSP00000310375.5:p.Ser266Arg
ENST00000395876.6:c.798C>G	ENSP00000379216.2:p.Ser266Arg
ENST00000483836.1:n.155C>G
XM_011530678.1:c.798C>G	XP_011528980.1:p.Ser266Arg
XM_011530678.2:c.798C>G	XP_011528980.1:p.Ser266Arg
XM_017028671.1:c.798C>G	XP_016884160.1:p.Ser266Arg
XR_001755180.2:n.1303C>G
XR_001755181.2:n.1071C>G
XR_430476.2:n.1193C>G