Canonical Allele Identifier: CA340285

Gene: MLC1

Linked Data

• ClinVar Variation Id: 4722
• ClinVar RCV Id: RCV000004987 ; RCV000599600 ; RCV001274276
• dbSNP Id: rs80358241
• ExAC: 22:50523196 A / AG
• gnomAD v2: 22-50523196-A-AG
• gnomAD v4: 22-50084767-A-AG
• MyVariant Identifiers: chr22:g.50523197dupG (hg19) ; chr22:g.50523196_50523197insG (hg19) ; chr22:g.50084768dupG (hg38) ; chr22:g.50084767_50084768insG (hg38)
• PubMed: PMID:11935341 ; PMID:12189496 ; PMID:14572144 ; PMID:20301707 ; PMID:22006981

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084773dup , CM000684.2:g.50084773dup	GRCh38
NC_000022.10:g.50523202dup , CM000684.1:g.50523202dup	GRCh37
NC_000022.9:g.48865329dup	NCBI36
NG_009162.1:g.6162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.135dup MANE Select	ENSP00000310375.6:p.Cys46LeufsTer?
ENST00000311597.9:c.135dup	ENSP00000310375.5:p.Cys46LeufsTer?
ENST00000395876.6:c.135dup	ENSP00000379216.2:p.Cys46LeufsTer?
ENST00000442311.1:c.135dup	ENSP00000401385.1:p.Cys46LeufsTer?
NM_015166.3:c.135dup	NP_055981.1:p.Cys46LeufsTer?
NM_139202.2:c.135dup	NP_631941.1:p.Cys46LeufsTer?
XM_011530678.1:c.135dup	XP_011528980.1:p.Cys46LeufsTer?
XR_430476.2:n.530dup
XM_011530678.2:c.135dup	XP_011528980.1:p.Cys46LeufsTer?
XM_017028671.1:c.135dup	XP_016884160.1:p.Cys46LeufsTer?
XR_001755180.2:n.640dup
XR_001755181.2:n.408dup
NM_001376472.1:c.135dup	NP_001363401.1:p.Cys46LeufsTer?
NM_001376473.1:c.135dup	NP_001363402.1:p.Cys46LeufsTer?
NM_001376474.1:c.135dup	NP_001363403.1:p.Cys46LeufsTer?
NM_001376475.1:c.135dup	NP_001363404.1:p.Cys46LeufsTer?
NM_001376476.1:c.135dup	NP_001363405.1:p.Cys46LeufsTer?
NM_001376477.1:c.135dup	NP_001363406.1:p.Cys46LeufsTer?
NM_001376478.1:c.135dup	NP_001363407.1:p.Cys46LeufsTer?
NM_001376479.1:c.135dup	NP_001363408.1:p.Cys46LeufsTer?
NM_001376480.1:c.135dup	NP_001363409.1:p.Cys46LeufsTer?
NM_001376481.1:c.135dup	NP_001363410.1:p.Cys46LeufsTer?
NM_001376482.1:c.135dup	NP_001363411.1:p.Cys46LeufsTer?
NM_001376483.1:c.135dup	NP_001363412.1:p.Cys46LeufsTer?
NM_001376484.1:c.-59+587dup	NP_001363413.1:n.-59+587dup
NM_015166.4:c.135dup MANE Select	NP_055981.1:p.Cys46LeufsTer?
NM_139202.3:c.135dup	NP_631941.1:p.Cys46LeufsTer?
NR_164811.1:n.482dup
NR_164812.1:n.266dup
NR_164813.1:n.659dup