Canonical Allele Identifier: CA412109082

Gene: MLC1

Linked Data

• MyVariant Identifiers: chr22:g.50512646G>C (hg19) ; chr22:g.50074217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074217G>C , CM000684.2:g.50074217G>C	GRCh38
NC_000022.10:g.50512646G>C , CM000684.1:g.50512646G>C	GRCh37
NC_000022.9:g.48854773G>C	NCBI36
NG_009162.1:g.16713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.713C>G MANE Select	ENSP00000310375.6:p.Ala238Gly
ENST00000311597.9:c.713C>G	ENSP00000310375.5:p.Ala238Gly
ENST00000395876.6:c.713C>G	ENSP00000379216.2:p.Ala238Gly
ENST00000442311.1:c.623C>G	ENSP00000401385.1:p.Ala208Gly
ENST00000470008.1:n.193C>G
NM_015166.3:c.713C>G	NP_055981.1:p.Ala238Gly
NM_139202.2:c.713C>G	NP_631941.1:p.Ala238Gly
XM_011530678.1:c.713C>G	XP_011528980.1:p.Ala238Gly
XR_430476.2:n.1108C>G
XM_011530678.2:c.713C>G	XP_011528980.1:p.Ala238Gly
XM_017028671.1:c.713C>G	XP_016884160.1:p.Ala238Gly
XR_001755180.2:n.1218C>G
XR_001755181.2:n.986C>G
NM_001376472.1:c.713C>G	NP_001363401.1:p.Ala238Gly
NM_001376473.1:c.713C>G	NP_001363402.1:p.Ala238Gly
NM_001376474.1:c.713C>G	NP_001363403.1:p.Ala238Gly
NM_001376475.1:c.713C>G	NP_001363404.1:p.Ala238Gly
NM_001376476.1:c.713C>G	NP_001363405.1:p.Ala238Gly
NM_001376477.1:c.713C>G	NP_001363406.1:p.Ala238Gly
NM_001376478.1:c.713C>G	NP_001363407.1:p.Ala238Gly
NM_001376479.1:c.713C>G	NP_001363408.1:p.Ala238Gly
NM_001376480.1:c.623C>G	NP_001363409.1:p.Ala208Gly
NM_001376481.1:c.611C>G	NP_001363410.1:p.Ala204Gly
NM_001376482.1:c.557C>G	NP_001363411.1:p.Ala186Gly
NM_001376483.1:c.557C>G	NP_001363412.1:p.Ala186Gly
NM_001376484.1:c.476C>G	NP_001363413.1:p.Ala159Gly
NM_015166.4:c.713C>G MANE Select	NP_055981.1:p.Ala238Gly
NM_139202.3:c.713C>G	NP_631941.1:p.Ala238Gly
NR_164811.1:n.1060C>G
NR_164812.1:n.844C>G
NR_164813.1:n.1237C>G