Canonical Allele Identifier: CA412109134

Gene: MLC1

Linked Data

• ClinVar Variation Id: 2228562
• ClinVar RCV Id: RCV002712331
• gnomAD v4: 22-50074232-A-G
• MyVariant Identifiers: chr22:g.50512661A>G (hg19) ; chr22:g.50074232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074232A>G , CM000684.2:g.50074232A>G	GRCh38
NC_000022.10:g.50512661A>G , CM000684.1:g.50512661A>G	GRCh37
NC_000022.9:g.48854788A>G	NCBI36
NG_009162.1:g.16698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.698T>C MANE Select	ENSP00000310375.6:p.Phe233Ser
ENST00000311597.9:c.698T>C	ENSP00000310375.5:p.Phe233Ser
ENST00000395876.6:c.698T>C	ENSP00000379216.2:p.Phe233Ser
ENST00000442311.1:c.608T>C	ENSP00000401385.1:p.Phe203Ser
ENST00000470008.1:n.178T>C
NM_015166.3:c.698T>C	NP_055981.1:p.Phe233Ser
NM_139202.2:c.698T>C	NP_631941.1:p.Phe233Ser
XM_011530678.1:c.698T>C	XP_011528980.1:p.Phe233Ser
XR_430476.2:n.1093T>C
XM_011530678.2:c.698T>C	XP_011528980.1:p.Phe233Ser
XM_017028671.1:c.698T>C	XP_016884160.1:p.Phe233Ser
XR_001755180.2:n.1203T>C
XR_001755181.2:n.971T>C
NM_001376472.1:c.698T>C	NP_001363401.1:p.Phe233Ser
NM_001376473.1:c.698T>C	NP_001363402.1:p.Phe233Ser
NM_001376474.1:c.698T>C	NP_001363403.1:p.Phe233Ser
NM_001376475.1:c.698T>C	NP_001363404.1:p.Phe233Ser
NM_001376476.1:c.698T>C	NP_001363405.1:p.Phe233Ser
NM_001376477.1:c.698T>C	NP_001363406.1:p.Phe233Ser
NM_001376478.1:c.698T>C	NP_001363407.1:p.Phe233Ser
NM_001376479.1:c.698T>C	NP_001363408.1:p.Phe233Ser
NM_001376480.1:c.608T>C	NP_001363409.1:p.Phe203Ser
NM_001376481.1:c.596T>C	NP_001363410.1:p.Phe199Ser
NM_001376482.1:c.542T>C	NP_001363411.1:p.Phe181Ser
NM_001376483.1:c.542T>C	NP_001363412.1:p.Phe181Ser
NM_001376484.1:c.461T>C	NP_001363413.1:p.Phe154Ser
NM_015166.4:c.698T>C MANE Select	NP_055981.1:p.Phe233Ser
NM_139202.3:c.698T>C	NP_631941.1:p.Phe233Ser
NR_164811.1:n.1045T>C
NR_164812.1:n.829T>C
NR_164813.1:n.1222T>C