Canonical Allele Identifier: CA340284

Gene: MLC1

Linked Data

• ClinVar Variation Id: 4721
• ClinVar RCV Id: RCV000004986 ; RCV000293896 ; RCV001826418
• dbSNP Id: rs80358242
• gnomAD v4: 22-50084727-C-T
• MyVariant Identifiers: chr22:g.50523156C>T (hg19) ; chr22:g.50084727C>T (hg38)
• PubMed: PMID:12189496 ; PMID:18757878 ; PMID:20301707 ; PMID:23793458

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084727C>T , CM000684.2:g.50084727C>T	GRCh38
NC_000022.10:g.50523156C>T , CM000684.1:g.50523156C>T	GRCh37
NC_000022.9:g.48865283C>T	NCBI36
NG_009162.1:g.6203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.176G>A MANE Select	ENSP00000310375.6:p.Gly59Glu
ENST00000311597.9:c.176G>A	ENSP00000310375.5:p.Gly59Glu
ENST00000395876.6:c.176G>A	ENSP00000379216.2:p.Gly59Glu
ENST00000442311.1:c.176G>A	ENSP00000401385.1:p.Gly59Glu
NM_015166.3:c.176G>A	NP_055981.1:p.Gly59Glu
NM_139202.2:c.176G>A	NP_631941.1:p.Gly59Glu
XM_011530678.1:c.176G>A	XP_011528980.1:p.Gly59Glu
XR_430476.2:n.571G>A
XM_011530678.2:c.176G>A	XP_011528980.1:p.Gly59Glu
XM_017028671.1:c.176G>A	XP_016884160.1:p.Gly59Glu
XR_001755180.2:n.681G>A
XR_001755181.2:n.449G>A
NM_001376472.1:c.176G>A	NP_001363401.1:p.Gly59Glu
NM_001376473.1:c.176G>A	NP_001363402.1:p.Gly59Glu
NM_001376474.1:c.176G>A	NP_001363403.1:p.Gly59Glu
NM_001376475.1:c.176G>A	NP_001363404.1:p.Gly59Glu
NM_001376476.1:c.176G>A	NP_001363405.1:p.Gly59Glu
NM_001376477.1:c.176G>A	NP_001363406.1:p.Gly59Glu
NM_001376478.1:c.176G>A	NP_001363407.1:p.Gly59Glu
NM_001376479.1:c.176G>A	NP_001363408.1:p.Gly59Glu
NM_001376480.1:c.176G>A	NP_001363409.1:p.Gly59Glu
NM_001376481.1:c.176G>A	NP_001363410.1:p.Gly59Glu
NM_001376482.1:c.176G>A	NP_001363411.1:p.Gly59Glu
NM_001376483.1:c.176G>A	NP_001363412.1:p.Gly59Glu
NM_001376484.1:c.-59+628G>A	NP_001363413.1:n.-59+628G>A
NM_015166.4:c.176G>A MANE Select	NP_055981.1:p.Gly59Glu
NM_139202.3:c.176G>A	NP_631941.1:p.Gly59Glu
NR_164811.1:n.523G>A
NR_164812.1:n.307G>A
NR_164813.1:n.700G>A