Canonical Allele Identifier: CA10303600

Gene: MLC1

Linked Data

• ClinVar Variation Id: 260573
• ClinVar RCV Id: RCV000254494 ; RCV001527233 ; RCV001618450
• dbSNP Id: rs79301
• ExAC: 22:50518723 A / G
• gnomAD v2: 22-50518723-A-G
• gnomAD v3: 22-50080294-A-G
• gnomAD v4: 22-50080294-A-G
• MyVariant Identifiers: chr22:g.50518723A>G (hg19) ; chr22:g.50080294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50080294A>G , CM000684.2:g.50080294A>G	GRCh38
NC_000022.10:g.50518723A>G , CM000684.1:g.50518723A>G	GRCh37
NC_000022.9:g.48860850A>G	NCBI36
NG_009162.1:g.10636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.321+50T>C MANE Select	ENSP00000310375.6:n.321+50T>C
ENST00000311597.9:c.321+50T>C	ENSP00000310375.5:n.321+50T>C
ENST00000395876.6:c.321+50T>C	ENSP00000379216.2:n.321+50T>C
ENST00000442311.1:c.231+50T>C	ENSP00000401385.1:n.231+50T>C
NM_015166.3:c.321+50T>C	NP_055981.1:n.321+50T>C
NM_139202.2:c.321+50T>C	NP_631941.1:n.321+50T>C
XM_011530678.1:c.321+50T>C	XP_011528980.1:n.321+50T>C
XR_430476.2:n.716+50T>C
XM_011530678.2:c.321+50T>C	XP_011528980.1:n.321+50T>C
XM_017028671.1:c.321+50T>C	XP_016884160.1:n.321+50T>C
XR_001755180.2:n.826+50T>C
XR_001755181.2:n.594+50T>C
NM_001376472.1:c.321+50T>C	NP_001363401.1:n.321+50T>C
NM_001376473.1:c.321+50T>C	NP_001363402.1:n.321+50T>C
NM_001376474.1:c.321+50T>C	NP_001363403.1:n.321+50T>C
NM_001376475.1:c.321+50T>C	NP_001363404.1:n.321+50T>C
NM_001376476.1:c.321+50T>C	NP_001363405.1:n.321+50T>C
NM_001376477.1:c.321+50T>C	NP_001363406.1:n.321+50T>C
NM_001376478.1:c.321+50T>C	NP_001363407.1:n.321+50T>C
NM_001376479.1:c.321+50T>C	NP_001363408.1:n.321+50T>C
NM_001376480.1:c.231+50T>C	NP_001363409.1:n.231+50T>C
NM_001376481.1:c.321+50T>C	NP_001363410.1:n.321+50T>C
NM_001376482.1:c.267+2790T>C	NP_001363411.1:n.267+2790T>C
NM_001376483.1:c.267+2790T>C	NP_001363412.1:n.267+2790T>C
NM_001376484.1:c.84+50T>C	NP_001363413.1:n.84+50T>C
NM_015166.4:c.321+50T>C MANE Select	NP_055981.1:n.321+50T>C
NM_139202.3:c.321+50T>C	NP_631941.1:n.321+50T>C
NR_164811.1:n.668+50T>C
NR_164812.1:n.452+50T>C
NR_164813.1:n.845+50T>C