Canonical Allele Identifier: CA2839277923
Gene: MLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50084665T>C , CM000684.2:g.50084665T>C GRCh38
NC_000022.10:g.50523094T>C , CM000684.1:g.50523094T>C GRCh37
NC_000022.9:g.48865221T>C NCBI36
NG_009162.1:g.6265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311597.10:c.177+61A>G MANE Select ENSP00000310375.6:n.177+61A>G
ENST00000311597.9:c.177+61A>G ENSP00000310375.5:n.177+61A>G
ENST00000395876.6:c.177+61A>G ENSP00000379216.2:n.177+61A>G
ENST00000442311.1:c.177+61A>G ENSP00000401385.1:n.177+61A>G
NM_015166.3:c.177+61A>G NP_055981.1:n.177+61A>G
NM_139202.2:c.177+61A>G NP_631941.1:n.177+61A>G
XM_011530678.1:c.177+61A>G XP_011528980.1:n.177+61A>G
XR_430476.2:n.572+61A>G
XM_011530678.2:c.177+61A>G XP_011528980.1:n.177+61A>G
XM_017028671.1:c.177+61A>G XP_016884160.1:n.177+61A>G
XR_001755180.2:n.682+61A>G
XR_001755181.2:n.450+61A>G
NM_001376472.1:c.177+61A>G NP_001363401.1:n.177+61A>G
NM_001376473.1:c.177+61A>G NP_001363402.1:n.177+61A>G
NM_001376474.1:c.177+61A>G NP_001363403.1:n.177+61A>G
NM_001376475.1:c.177+61A>G NP_001363404.1:n.177+61A>G
NM_001376476.1:c.177+61A>G NP_001363405.1:n.177+61A>G
NM_001376477.1:c.177+61A>G NP_001363406.1:n.177+61A>G
NM_001376478.1:c.177+61A>G NP_001363407.1:n.177+61A>G
NM_001376479.1:c.177+61A>G NP_001363408.1:n.177+61A>G
NM_001376480.1:c.177+61A>G NP_001363409.1:n.177+61A>G
NM_001376481.1:c.177+61A>G NP_001363410.1:n.177+61A>G
NM_001376482.1:c.177+61A>G NP_001363411.1:n.177+61A>G
NM_001376483.1:c.177+61A>G NP_001363412.1:n.177+61A>G
NM_001376484.1:c.-59+690A>G NP_001363413.1:n.-59+690A>G
NM_015166.4:c.177+61A>G MANE Select NP_055981.1:n.177+61A>G
NM_139202.3:c.177+61A>G NP_631941.1:n.177+61A>G
NR_164811.1:n.524+61A>G
NR_164812.1:n.308+61A>G
NR_164813.1:n.701+61A>G