Canonical Allele Identifier: CA219969

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50070562T>G , CM000684.2:g.50070562T>G	GRCh38
NC_000022.10:g.50508991T>G , CM000684.1:g.50508991T>G	GRCh37
NC_000022.9:g.48851118T>G	NCBI36
NG_009162.1:g.20368A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.736A>C MANE Select	NP_055981.1:p.Ser246Arg
ENST00000311597.10:c.736A>C MANE Select	ENSP00000310375.6:p.Ser246Arg
NM_001376472.1:c.736A>C	NP_001363401.1:p.Ser246Arg
NM_001376473.1:c.736A>C	NP_001363402.1:p.Ser246Arg
NM_001376474.1:c.736A>C	NP_001363403.1:p.Ser246Arg
NM_001376475.1:c.736A>C	NP_001363404.1:p.Ser246Arg
NM_001376476.1:c.736A>C	NP_001363405.1:p.Ser246Arg
NM_001376477.1:c.736A>C	NP_001363406.1:p.Ser246Arg
NM_001376478.1:c.736A>C	NP_001363407.1:p.Ser246Arg
NM_001376479.1:c.715-2007A>C	NP_001363408.1:n.715-2007A>C
NM_001376480.1:c.646A>C	NP_001363409.1:p.Ser216Arg
NM_001376481.1:c.634A>C	NP_001363410.1:p.Ser212Arg
NM_001376482.1:c.580A>C	NP_001363411.1:p.Ser194Arg
NM_001376483.1:c.580A>C	NP_001363412.1:p.Ser194Arg
NM_001376484.1:c.499A>C	NP_001363413.1:p.Ser167Arg
NM_015166.3:c.736A>C	NP_055981.1:p.Ser246Arg
NM_139202.2:c.736A>C	NP_631941.1:p.Ser246Arg
NM_139202.3:c.736A>C	NP_631941.1:p.Ser246Arg
NR_164811.1:n.1083A>C
NR_164812.1:n.867A>C
NR_164813.1:n.1260A>C
ENST00000311597.9:c.736A>C	ENSP00000310375.5:p.Ser246Arg
ENST00000395876.6:c.736A>C	ENSP00000379216.2:p.Ser246Arg
ENST00000442311.1:c.646A>C	ENSP00000401385.1:p.Ser216Arg
ENST00000470008.1:n.216A>C
ENST00000483836.1:n.93A>C
XM_011530678.1:c.736A>C	XP_011528980.1:p.Ser246Arg
XM_011530678.2:c.736A>C	XP_011528980.1:p.Ser246Arg
XM_017028671.1:c.736A>C	XP_016884160.1:p.Ser246Arg
XR_001755180.2:n.1241A>C
XR_001755181.2:n.1009A>C
XR_430476.2:n.1131A>C