Canonical Allele Identifier: CA253251

Gene: MLC1

Linked Data

• ClinVar Variation Id: 4717
• ClinVar RCV Id: RCV000004982
• dbSNP Id: rs121908343
• gnomAD v4: 22-50079918-G-T
• MyVariant Identifiers: chr22:g.50518347G>T (hg19) ; chr22:g.50079918G>T (hg38)
• PubMed: PMID:11935341

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079918G>T , CM000684.2:g.50079918G>T	GRCh38
NC_000022.10:g.50518347G>T , CM000684.1:g.50518347G>T	GRCh37
NC_000022.9:g.48860474G>T	NCBI36
NG_009162.1:g.11012C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311597.10:c.423C>A MANE Select	ENSP00000310375.6:p.Asn141Lys
ENST00000311597.9:c.423C>A	ENSP00000310375.5:p.Asn141Lys
ENST00000395876.6:c.423C>A	ENSP00000379216.2:p.Asn141Lys
ENST00000442311.1:c.333C>A	ENSP00000401385.1:p.Asn111Lys
NM_015166.3:c.423C>A	NP_055981.1:p.Asn141Lys
NM_139202.2:c.423C>A	NP_631941.1:p.Asn141Lys
XM_011530678.1:c.423C>A	XP_011528980.1:p.Asn141Lys
XR_430476.2:n.818C>A
XM_011530678.2:c.423C>A	XP_011528980.1:p.Asn141Lys
XM_017028671.1:c.423C>A	XP_016884160.1:p.Asn141Lys
XR_001755180.2:n.928C>A
XR_001755181.2:n.696C>A
NM_001376472.1:c.423C>A	NP_001363401.1:p.Asn141Lys
NM_001376473.1:c.423C>A	NP_001363402.1:p.Asn141Lys
NM_001376474.1:c.423C>A	NP_001363403.1:p.Asn141Lys
NM_001376475.1:c.423C>A	NP_001363404.1:p.Asn141Lys
NM_001376476.1:c.423C>A	NP_001363405.1:p.Asn141Lys
NM_001376477.1:c.423C>A	NP_001363406.1:p.Asn141Lys
NM_001376478.1:c.423C>A	NP_001363407.1:p.Asn141Lys
NM_001376479.1:c.423C>A	NP_001363408.1:p.Asn141Lys
NM_001376480.1:c.333C>A	NP_001363409.1:p.Asn111Lys
NM_001376481.1:c.321+426C>A	NP_001363410.1:n.321+426C>A
NM_001376482.1:c.268-2416C>A	NP_001363411.1:n.268-2416C>A
NM_001376483.1:c.268-2416C>A	NP_001363412.1:n.268-2416C>A
NM_001376484.1:c.186C>A	NP_001363413.1:p.Asn62Lys
NM_015166.4:c.423C>A MANE Select	NP_055981.1:p.Asn141Lys
NM_139202.3:c.423C>A	NP_631941.1:p.Asn141Lys
NR_164811.1:n.770C>A
NR_164812.1:n.554C>A
NR_164813.1:n.947C>A