Canonical Allele Identifier: CA10645724

Gene: MLC1

Linked Data

• ClinVar Variation Id: 342071
• ClinVar RCV Id: RCV000380878
• dbSNP Id: rs886057619
• gnomAD v2: 22-50497849-A-C
• gnomAD v3: 22-50059420-A-C
• gnomAD v4: 22-50059420-A-C
• MyVariant Identifiers: chr22:g.50497849A>C (hg19) ; chr22:g.50059420A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50059420A>C , CM000684.2:g.50059420A>C	GRCh38
NC_000022.10:g.50497849A>C , CM000684.1:g.50497849A>C	GRCh37
NC_000022.9:g.48839976A>C	NCBI36
NG_009162.1:g.31510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.*2163T>G MANE Select	ENSP00000310375.6:n.*2163T>G
ENST00000311597.9:c.*2163T>G	ENSP00000310375.5:n.*2163T>G
ENST00000395876.6:c.*2163T>G	ENSP00000379216.2:n.*2163T>G
NM_015166.3:c.*2163T>G	NP_055981.1:n.*2163T>G
NM_139202.2:c.*2163T>G	NP_631941.1:n.*2163T>G
XM_011530678.1:c.*2163T>G	XP_011528980.1:n.*2163T>G
XR_430476.2:n.3641T>G
XM_011530678.2:c.*2163T>G	XP_011528980.1:n.*2163T>G
XM_017028671.1:c.*2163T>G	XP_016884160.1:n.*2163T>G
XR_001755180.2:n.2502T>G
XR_001755181.2:n.2270T>G
NM_001376472.1:c.*2163T>G	NP_001363401.1:n.*2163T>G
NM_001376473.1:c.*2163T>G	NP_001363402.1:n.*2163T>G
NM_001376474.1:c.*2163T>G	NP_001363403.1:n.*2163T>G
NM_001376475.1:c.*2163T>G	NP_001363404.1:n.*2163T>G
NM_001376476.1:c.*2163T>G	NP_001363405.1:n.*2163T>G
NM_001376477.1:c.*778T>G	NP_001363406.1:n.*778T>G
NM_001376478.1:c.*778T>G	NP_001363407.1:n.*778T>G
NM_001376479.1:c.*2163T>G	NP_001363408.1:n.*2163T>G
NM_001376480.1:c.*2163T>G	NP_001363409.1:n.*2163T>G
NM_001376481.1:c.*2163T>G	NP_001363410.1:n.*2163T>G
NM_001376482.1:c.*2163T>G	NP_001363411.1:n.*2163T>G
NM_001376483.1:c.*2163T>G	NP_001363412.1:n.*2163T>G
NM_001376484.1:c.*2163T>G	NP_001363413.1:n.*2163T>G
NM_015166.4:c.*2163T>G MANE Select	NP_055981.1:n.*2163T>G
NM_139202.3:c.*2163T>G	NP_631941.1:n.*2163T>G
NR_164811.1:n.2344T>G
NR_164812.1:n.2176T>G
NR_164813.1:n.2521T>G