Canonical Allele Identifier: CA2410650207
Community Standard Title: NM_015166.4(MLC1):c.839C= (p.Ser280=)
Gene: MLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50068488G= , CM000684.2:g.50068488G= GRCh38
NC_000022.10:g.50506917G= , CM000684.1:g.50506917G= GRCh37
NC_000022.9:g.48849044G= NCBI36
NG_009162.1:g.22442C=

Transcript Alleles

HGVS Amino-acid Change
NM_015166.4:c.839C= MANE Select NP_055981.1:p.Ser280=
ENST00000311597.10:c.839C= MANE Select ENSP00000310375.6:p.Ser280=
NM_001376472.1:c.839C= NP_001363401.1:p.Ser280=
NM_001376473.1:c.839C= NP_001363402.1:p.Ser280=
NM_001376474.1:c.839C= NP_001363403.1:p.Ser280=
NM_001376475.1:c.839C= NP_001363404.1:p.Ser280=
NM_001376476.1:c.839C= NP_001363405.1:p.Ser280=
NM_001376477.1:c.839C= NP_001363406.1:p.Ser280=
NM_001376478.1:c.839C= NP_001363407.1:p.Ser280=
NM_001376479.1:c.782C= NP_001363408.1:p.Ser261=
NM_001376480.1:c.749C= NP_001363409.1:p.Ser250=
NM_001376481.1:c.737C= NP_001363410.1:p.Ser246=
NM_001376482.1:c.683C= NP_001363411.1:p.Ser228=
NM_001376483.1:c.683C= NP_001363412.1:p.Ser228=
NM_001376484.1:c.602C= NP_001363413.1:p.Ser201=
NM_015166.3:c.839C= NP_055981.1:p.Ser280=
NM_139202.2:c.839C= NP_631941.1:p.Ser280=
NM_139202.3:c.839C= NP_631941.1:p.Ser280=
NR_164811.1:n.1186C=
NR_164812.1:n.970C=
NR_164813.1:n.1363C=
ENST00000311597.9:c.839C= ENSP00000310375.5:p.Ser280=
ENST00000395876.6:c.839C= ENSP00000379216.2:p.Ser280=
ENST00000483836.1:n.196C=
XM_011530678.1:c.839C= XP_011528980.1:p.Ser280=
XM_011530678.2:c.839C= XP_011528980.1:p.Ser280=
XM_017028671.1:c.839C= XP_016884160.1:p.Ser280=
XR_001755180.2:n.1344C=
XR_001755181.2:n.1112C=
XR_430476.2:n.1234C=