Canonical Allele Identifier: CA412109429

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50076842G>C , CM000684.2:g.50076842G>C	GRCh38
NC_000022.10:g.50515271G>C , CM000684.1:g.50515271G>C	GRCh37
NC_000022.9:g.48857398G>C	NCBI36
NG_009162.1:g.14088C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.596C>G MANE Select	NP_055981.1:p.Ser199Ter
ENST00000311597.10:c.596C>G MANE Select	ENSP00000310375.6:p.Ser199Ter
NM_001376472.1:c.596C>G	NP_001363401.1:p.Ser199Ter
NM_001376473.1:c.596C>G	NP_001363402.1:p.Ser199Ter
NM_001376474.1:c.596C>G	NP_001363403.1:p.Ser199Ter
NM_001376475.1:c.596C>G	NP_001363404.1:p.Ser199Ter
NM_001376476.1:c.596C>G	NP_001363405.1:p.Ser199Ter
NM_001376477.1:c.596C>G	NP_001363406.1:p.Ser199Ter
NM_001376478.1:c.596C>G	NP_001363407.1:p.Ser199Ter
NM_001376479.1:c.596C>G	NP_001363408.1:p.Ser199Ter
NM_001376480.1:c.506C>G	NP_001363409.1:p.Ser169Ter
NM_001376481.1:c.494C>G	NP_001363410.1:p.Ser165Ter
NM_001376482.1:c.440C>G	NP_001363411.1:p.Ser147Ter
NM_001376483.1:c.440C>G	NP_001363412.1:p.Ser147Ter
NM_001376484.1:c.359C>G	NP_001363413.1:p.Ser120Ter
NM_015166.3:c.596C>G	NP_055981.1:p.Ser199Ter
NM_139202.2:c.596C>G	NP_631941.1:p.Ser199Ter
NM_139202.3:c.596C>G	NP_631941.1:p.Ser199Ter
NR_164811.1:n.943C>G
NR_164812.1:n.727C>G
NR_164813.1:n.1120C>G
ENST00000311597.9:c.596C>G	ENSP00000310375.5:p.Ser199Ter
ENST00000395876.6:c.596C>G	ENSP00000379216.2:p.Ser199Ter
ENST00000442311.1:c.506C>G	ENSP00000401385.1:p.Ser169Ter
XM_011530678.1:c.596C>G	XP_011528980.1:p.Ser199Ter
XM_011530678.2:c.596C>G	XP_011528980.1:p.Ser199Ter
XM_017028671.1:c.596C>G	XP_016884160.1:p.Ser199Ter
XR_001755180.2:n.1101C>G
XR_001755181.2:n.869C>G
XR_430476.2:n.991C>G