Canonical Allele Identifier: CA16042032

Gene: MLC1

Linked Data

• ClinVar Variation Id: 371381
• ClinVar RCV Id: RCV000410294 ; RCV003669145
• dbSNP Id: rs1057517228
• MyVariant Identifiers: chr22:g.50523265G>A (hg19) ; chr22:g.50084836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50084836G>A , CM000684.2:g.50084836G>A	GRCh38
NC_000022.10:g.50523265G>A , CM000684.1:g.50523265G>A	GRCh37
NC_000022.9:g.48865392G>A	NCBI36
NG_009162.1:g.6094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.67C>T MANE Select	ENSP00000310375.6:p.Gln23Ter
ENST00000311597.9:c.67C>T	ENSP00000310375.5:p.Gln23Ter
ENST00000395876.6:c.67C>T	ENSP00000379216.2:p.Gln23Ter
ENST00000442311.1:c.67C>T	ENSP00000401385.1:p.Gln23Ter
NM_015166.3:c.67C>T	NP_055981.1:p.Gln23Ter
NM_139202.2:c.67C>T	NP_631941.1:p.Gln23Ter
XM_011530678.1:c.67C>T	XP_011528980.1:p.Gln23Ter
XR_430476.2:n.462C>T
XM_011530678.2:c.67C>T	XP_011528980.1:p.Gln23Ter
XM_017028671.1:c.67C>T	XP_016884160.1:p.Gln23Ter
XR_001755180.2:n.572C>T
XR_001755181.2:n.340C>T
NM_001376472.1:c.67C>T	NP_001363401.1:p.Gln23Ter
NM_001376473.1:c.67C>T	NP_001363402.1:p.Gln23Ter
NM_001376474.1:c.67C>T	NP_001363403.1:p.Gln23Ter
NM_001376475.1:c.67C>T	NP_001363404.1:p.Gln23Ter
NM_001376476.1:c.67C>T	NP_001363405.1:p.Gln23Ter
NM_001376477.1:c.67C>T	NP_001363406.1:p.Gln23Ter
NM_001376478.1:c.67C>T	NP_001363407.1:p.Gln23Ter
NM_001376479.1:c.67C>T	NP_001363408.1:p.Gln23Ter
NM_001376480.1:c.67C>T	NP_001363409.1:p.Gln23Ter
NM_001376481.1:c.67C>T	NP_001363410.1:p.Gln23Ter
NM_001376482.1:c.67C>T	NP_001363411.1:p.Gln23Ter
NM_001376483.1:c.67C>T	NP_001363412.1:p.Gln23Ter
NM_001376484.1:c.-59+519C>T	NP_001363413.1:n.-59+519C>T
NM_015166.4:c.67C>T MANE Select	NP_055981.1:p.Gln23Ter
NM_139202.3:c.67C>T	NP_631941.1:p.Gln23Ter
NR_164811.1:n.414C>T
NR_164812.1:n.198C>T
NR_164813.1:n.591C>T