Canonical Allele Identifier: CA412112223

Gene: MLC1

Linked Data

• gnomAD v4: 22-50084728-C-T
• MyVariant Identifiers: chr22:g.50523157C>T (hg19) ; chr22:g.50084728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084728C>T , CM000684.2:g.50084728C>T	GRCh38
NC_000022.10:g.50523157C>T , CM000684.1:g.50523157C>T	GRCh37
NC_000022.9:g.48865284C>T	NCBI36
NG_009162.1:g.6202G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311597.10:c.175G>A MANE Select	ENSP00000310375.6:p.Gly59Arg
ENST00000311597.9:c.175G>A	ENSP00000310375.5:p.Gly59Arg
ENST00000395876.6:c.175G>A	ENSP00000379216.2:p.Gly59Arg
ENST00000442311.1:c.175G>A	ENSP00000401385.1:p.Gly59Arg
NM_015166.3:c.175G>A	NP_055981.1:p.Gly59Arg
NM_139202.2:c.175G>A	NP_631941.1:p.Gly59Arg
XM_011530678.1:c.175G>A	XP_011528980.1:p.Gly59Arg
XR_430476.2:n.570G>A
XM_011530678.2:c.175G>A	XP_011528980.1:p.Gly59Arg
XM_017028671.1:c.175G>A	XP_016884160.1:p.Gly59Arg
XR_001755180.2:n.680G>A
XR_001755181.2:n.448G>A
NM_001376472.1:c.175G>A	NP_001363401.1:p.Gly59Arg
NM_001376473.1:c.175G>A	NP_001363402.1:p.Gly59Arg
NM_001376474.1:c.175G>A	NP_001363403.1:p.Gly59Arg
NM_001376475.1:c.175G>A	NP_001363404.1:p.Gly59Arg
NM_001376476.1:c.175G>A	NP_001363405.1:p.Gly59Arg
NM_001376477.1:c.175G>A	NP_001363406.1:p.Gly59Arg
NM_001376478.1:c.175G>A	NP_001363407.1:p.Gly59Arg
NM_001376479.1:c.175G>A	NP_001363408.1:p.Gly59Arg
NM_001376480.1:c.175G>A	NP_001363409.1:p.Gly59Arg
NM_001376481.1:c.175G>A	NP_001363410.1:p.Gly59Arg
NM_001376482.1:c.175G>A	NP_001363411.1:p.Gly59Arg
NM_001376483.1:c.175G>A	NP_001363412.1:p.Gly59Arg
NM_001376484.1:c.-59+627G>A	NP_001363413.1:n.-59+627G>A
NM_015166.4:c.175G>A MANE Select	NP_055981.1:p.Gly59Arg
NM_139202.3:c.175G>A	NP_631941.1:p.Gly59Arg
NR_164811.1:n.522G>A
NR_164812.1:n.306G>A
NR_164813.1:n.699G>A