Canonical Allele Identifier: CA412106297

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50064176A>T , CM000684.2:g.50064176A>T	GRCh38
NC_000022.10:g.50502605A>T , CM000684.1:g.50502605A>T	GRCh37
NC_000022.9:g.48844732A>T	NCBI36
NG_009162.1:g.26754T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.917T>A MANE Select	NP_055981.1:p.Leu306Gln
ENST00000311597.10:c.917T>A MANE Select	ENSP00000310375.6:p.Leu306Gln
NM_001376472.1:c.917T>A	NP_001363401.1:p.Leu306Gln
NM_001376473.1:c.917T>A	NP_001363402.1:p.Leu306Gln
NM_001376474.1:c.917T>A	NP_001363403.1:p.Leu306Gln
NM_001376475.1:c.917T>A	NP_001363404.1:p.Leu306Gln
NM_001376476.1:c.917T>A	NP_001363405.1:p.Leu306Gln
NM_001376477.1:c.917T>A	NP_001363406.1:p.Leu306Gln
NM_001376478.1:c.917T>A	NP_001363407.1:p.Leu306Gln
NM_001376479.1:c.860T>A	NP_001363408.1:p.Leu287Gln
NM_001376480.1:c.827T>A	NP_001363409.1:p.Leu276Gln
NM_001376481.1:c.815T>A	NP_001363410.1:p.Leu272Gln
NM_001376482.1:c.761T>A	NP_001363411.1:p.Leu254Gln
NM_001376483.1:c.761T>A	NP_001363412.1:p.Leu254Gln
NM_001376484.1:c.680T>A	NP_001363413.1:p.Leu227Gln
NM_015166.3:c.917T>A	NP_055981.1:p.Leu306Gln
NM_139202.2:c.917T>A	NP_631941.1:p.Leu306Gln
NM_139202.3:c.917T>A	NP_631941.1:p.Leu306Gln
NR_164811.1:n.1264T>A
NR_164812.1:n.1048T>A
NR_164813.1:n.1441T>A
ENST00000311597.9:c.917T>A	ENSP00000310375.5:p.Leu306Gln
ENST00000395876.6:c.917T>A	ENSP00000379216.2:p.Leu306Gln
ENST00000483836.1:n.274T>A
XM_011530678.1:c.895-2519T>A	XP_011528980.1:n.895-2519T>A
XM_011530678.2:c.895-2519T>A	XP_011528980.1:n.895-2519T>A
XM_017028671.1:c.917T>A	XP_016884160.1:p.Leu306Gln
XR_001755180.2:n.1422T>A
XR_001755181.2:n.1190T>A
XR_430476.2:n.1312T>A