Canonical Allele Identifier: CA2410655784
Gene: MLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50079864G= , CM000684.2:g.50079864G= GRCh38
NC_000022.10:g.50518293G= , CM000684.1:g.50518293G= GRCh37
NC_000022.9:g.48860420G= NCBI36
NG_009162.1:g.11066C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311597.10:c.423+54C= MANE Select ENSP00000310375.6:n.423+54C=
ENST00000311597.9:c.423+54C= ENSP00000310375.5:n.423+54C=
ENST00000395876.6:c.423+54C= ENSP00000379216.2:n.423+54C=
ENST00000442311.1:c.333+54C= ENSP00000401385.1:n.333+54C=
NM_015166.3:c.423+54C= NP_055981.1:n.423+54C=
NM_139202.2:c.423+54C= NP_631941.1:n.423+54C=
XM_011530678.1:c.423+54C= XP_011528980.1:n.423+54C=
XR_430476.2:n.818+54C=
XM_011530678.2:c.423+54C= XP_011528980.1:n.423+54C=
XM_017028671.1:c.423+54C= XP_016884160.1:n.423+54C=
XR_001755180.2:n.928+54C=
XR_001755181.2:n.696+54C=
NM_001376472.1:c.423+54C= NP_001363401.1:n.423+54C=
NM_001376473.1:c.423+54C= NP_001363402.1:n.423+54C=
NM_001376474.1:c.423+54C= NP_001363403.1:n.423+54C=
NM_001376475.1:c.423+54C= NP_001363404.1:n.423+54C=
NM_001376476.1:c.423+54C= NP_001363405.1:n.423+54C=
NM_001376477.1:c.423+54C= NP_001363406.1:n.423+54C=
NM_001376478.1:c.423+54C= NP_001363407.1:n.423+54C=
NM_001376479.1:c.423+54C= NP_001363408.1:n.423+54C=
NM_001376480.1:c.333+54C= NP_001363409.1:n.333+54C=
NM_001376481.1:c.321+480C= NP_001363410.1:n.321+480C=
NM_001376482.1:c.268-2362C= NP_001363411.1:n.268-2362C=
NM_001376483.1:c.268-2362C= NP_001363412.1:n.268-2362C=
NM_001376484.1:c.186+54C= NP_001363413.1:n.186+54C=
NM_015166.4:c.423+54C= MANE Select NP_055981.1:n.423+54C=
NM_139202.3:c.423+54C= NP_631941.1:n.423+54C=
NR_164811.1:n.770+54C=
NR_164812.1:n.554+54C=
NR_164813.1:n.947+54C=