Canonical Allele Identifier: CA253252

Gene: MLC1

Linked Data

• ClinVar Variation Id: 4718
• ClinVar RCV Id: RCV000004983
• dbSNP Id: rs121908344
• MyVariant Identifiers: chr22:g.50518348T>C (hg19) ; chr22:g.50079919T>C (hg38)
• PubMed: PMID:11935341

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079919T>C , CM000684.2:g.50079919T>C	GRCh38
NC_000022.10:g.50518348T>C , CM000684.1:g.50518348T>C	GRCh37
NC_000022.9:g.48860475T>C	NCBI36
NG_009162.1:g.11011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.422A>G MANE Select	ENSP00000310375.6:p.Asn141Ser
ENST00000311597.9:c.422A>G	ENSP00000310375.5:p.Asn141Ser
ENST00000395876.6:c.422A>G	ENSP00000379216.2:p.Asn141Ser
ENST00000442311.1:c.332A>G	ENSP00000401385.1:p.Asn111Ser
NM_015166.3:c.422A>G	NP_055981.1:p.Asn141Ser
NM_139202.2:c.422A>G	NP_631941.1:p.Asn141Ser
XM_011530678.1:c.422A>G	XP_011528980.1:p.Asn141Ser
XR_430476.2:n.817A>G
XM_011530678.2:c.422A>G	XP_011528980.1:p.Asn141Ser
XM_017028671.1:c.422A>G	XP_016884160.1:p.Asn141Ser
XR_001755180.2:n.927A>G
XR_001755181.2:n.695A>G
NM_001376472.1:c.422A>G	NP_001363401.1:p.Asn141Ser
NM_001376473.1:c.422A>G	NP_001363402.1:p.Asn141Ser
NM_001376474.1:c.422A>G	NP_001363403.1:p.Asn141Ser
NM_001376475.1:c.422A>G	NP_001363404.1:p.Asn141Ser
NM_001376476.1:c.422A>G	NP_001363405.1:p.Asn141Ser
NM_001376477.1:c.422A>G	NP_001363406.1:p.Asn141Ser
NM_001376478.1:c.422A>G	NP_001363407.1:p.Asn141Ser
NM_001376479.1:c.422A>G	NP_001363408.1:p.Asn141Ser
NM_001376480.1:c.332A>G	NP_001363409.1:p.Asn111Ser
NM_001376481.1:c.321+425A>G	NP_001363410.1:n.321+425A>G
NM_001376482.1:c.268-2417A>G	NP_001363411.1:n.268-2417A>G
NM_001376483.1:c.268-2417A>G	NP_001363412.1:n.268-2417A>G
NM_001376484.1:c.185A>G	NP_001363413.1:p.Asn62Ser
NM_015166.4:c.422A>G MANE Select	NP_055981.1:p.Asn141Ser
NM_139202.3:c.422A>G	NP_631941.1:p.Asn141Ser
NR_164811.1:n.769A>G
NR_164812.1:n.553A>G
NR_164813.1:n.946A>G