Canonical Allele Identifier: CA412107798

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068531T>G , CM000684.2:g.50068531T>G	GRCh38
NC_000022.10:g.50506960T>G , CM000684.1:g.50506960T>G	GRCh37
NC_000022.9:g.48849087T>G	NCBI36
NG_009162.1:g.22399A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.796A>C MANE Select	NP_055981.1:p.Ser266Arg
ENST00000311597.10:c.796A>C MANE Select	ENSP00000310375.6:p.Ser266Arg
NM_001376472.1:c.796A>C	NP_001363401.1:p.Ser266Arg
NM_001376473.1:c.796A>C	NP_001363402.1:p.Ser266Arg
NM_001376474.1:c.796A>C	NP_001363403.1:p.Ser266Arg
NM_001376475.1:c.796A>C	NP_001363404.1:p.Ser266Arg
NM_001376476.1:c.796A>C	NP_001363405.1:p.Ser266Arg
NM_001376477.1:c.796A>C	NP_001363406.1:p.Ser266Arg
NM_001376478.1:c.796A>C	NP_001363407.1:p.Ser266Arg
NM_001376479.1:c.739A>C	NP_001363408.1:p.Ser247Arg
NM_001376480.1:c.706A>C	NP_001363409.1:p.Ser236Arg
NM_001376481.1:c.694A>C	NP_001363410.1:p.Ser232Arg
NM_001376482.1:c.640A>C	NP_001363411.1:p.Ser214Arg
NM_001376483.1:c.640A>C	NP_001363412.1:p.Ser214Arg
NM_001376484.1:c.559A>C	NP_001363413.1:p.Ser187Arg
NM_015166.3:c.796A>C	NP_055981.1:p.Ser266Arg
NM_139202.2:c.796A>C	NP_631941.1:p.Ser266Arg
NM_139202.3:c.796A>C	NP_631941.1:p.Ser266Arg
NR_164811.1:n.1143A>C
NR_164812.1:n.927A>C
NR_164813.1:n.1320A>C
ENST00000311597.9:c.796A>C	ENSP00000310375.5:p.Ser266Arg
ENST00000395876.6:c.796A>C	ENSP00000379216.2:p.Ser266Arg
ENST00000483836.1:n.153A>C
XM_011530678.1:c.796A>C	XP_011528980.1:p.Ser266Arg
XM_011530678.2:c.796A>C	XP_011528980.1:p.Ser266Arg
XM_017028671.1:c.796A>C	XP_016884160.1:p.Ser266Arg
XR_001755180.2:n.1301A>C
XR_001755181.2:n.1069A>C
XR_430476.2:n.1191A>C