Canonical Allele Identifier: CA412112503

Gene: MLC1

Linked Data

• dbSNP Id: rs2062239363
• gnomAD v3: 22-50084775-A-T
• gnomAD v4: 22-50084775-A-T
• MyVariant Identifiers: chr22:g.50523204A>T (hg19) ; chr22:g.50084775A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084775A>T , CM000684.2:g.50084775A>T	GRCh38
NC_000022.10:g.50523204A>T , CM000684.1:g.50523204A>T	GRCh37
NC_000022.9:g.48865331A>T	NCBI36
NG_009162.1:g.6155T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.128T>A MANE Select	ENSP00000310375.6:p.Leu43Gln
ENST00000311597.9:c.128T>A	ENSP00000310375.5:p.Leu43Gln
ENST00000395876.6:c.128T>A	ENSP00000379216.2:p.Leu43Gln
ENST00000442311.1:c.128T>A	ENSP00000401385.1:p.Leu43Gln
NM_015166.3:c.128T>A	NP_055981.1:p.Leu43Gln
NM_139202.2:c.128T>A	NP_631941.1:p.Leu43Gln
XM_011530678.1:c.128T>A	XP_011528980.1:p.Leu43Gln
XR_430476.2:n.523T>A
XM_011530678.2:c.128T>A	XP_011528980.1:p.Leu43Gln
XM_017028671.1:c.128T>A	XP_016884160.1:p.Leu43Gln
XR_001755180.2:n.633T>A
XR_001755181.2:n.401T>A
NM_001376472.1:c.128T>A	NP_001363401.1:p.Leu43Gln
NM_001376473.1:c.128T>A	NP_001363402.1:p.Leu43Gln
NM_001376474.1:c.128T>A	NP_001363403.1:p.Leu43Gln
NM_001376475.1:c.128T>A	NP_001363404.1:p.Leu43Gln
NM_001376476.1:c.128T>A	NP_001363405.1:p.Leu43Gln
NM_001376477.1:c.128T>A	NP_001363406.1:p.Leu43Gln
NM_001376478.1:c.128T>A	NP_001363407.1:p.Leu43Gln
NM_001376479.1:c.128T>A	NP_001363408.1:p.Leu43Gln
NM_001376480.1:c.128T>A	NP_001363409.1:p.Leu43Gln
NM_001376481.1:c.128T>A	NP_001363410.1:p.Leu43Gln
NM_001376482.1:c.128T>A	NP_001363411.1:p.Leu43Gln
NM_001376483.1:c.128T>A	NP_001363412.1:p.Leu43Gln
NM_001376484.1:c.-59+580T>A	NP_001363413.1:n.-59+580T>A
NM_015166.4:c.128T>A MANE Select	NP_055981.1:p.Leu43Gln
NM_139202.3:c.128T>A	NP_631941.1:p.Leu43Gln
NR_164811.1:n.475T>A
NR_164812.1:n.259T>A
NR_164813.1:n.652T>A