Canonical Allele Identifier: CA10303468

Gene: MLC1

Linked Data

• ClinVar Variation Id: 342107
• ClinVar RCV Id: RCV000344988 ; RCV002520065 ; RCV003912442
• dbSNP Id: rs148532625
• ExAC: 22:50515306 T / G
• gnomAD v2: 22-50515306-T-G
• gnomAD v3: 22-50076877-T-G
• gnomAD v4: 22-50076877-T-G
• MyVariant Identifiers: chr22:g.50515306T>G (hg19) ; chr22:g.50076877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50076877T>G , CM000684.2:g.50076877T>G	GRCh38
NC_000022.10:g.50515306T>G , CM000684.1:g.50515306T>G	GRCh37
NC_000022.9:g.48857433T>G	NCBI36
NG_009162.1:g.14053A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.561A>C MANE Select	ENSP00000310375.6:p.Glu187Asp
ENST00000311597.9:c.561A>C	ENSP00000310375.5:p.Glu187Asp
ENST00000395876.6:c.561A>C	ENSP00000379216.2:p.Glu187Asp
ENST00000442311.1:c.471A>C	ENSP00000401385.1:p.Glu157Asp
NM_015166.3:c.561A>C	NP_055981.1:p.Glu187Asp
NM_139202.2:c.561A>C	NP_631941.1:p.Glu187Asp
XM_011530678.1:c.561A>C	XP_011528980.1:p.Glu187Asp
XR_430476.2:n.956A>C
XM_011530678.2:c.561A>C	XP_011528980.1:p.Glu187Asp
XM_017028671.1:c.561A>C	XP_016884160.1:p.Glu187Asp
XR_001755180.2:n.1066A>C
XR_001755181.2:n.834A>C
NM_001376472.1:c.561A>C	NP_001363401.1:p.Glu187Asp
NM_001376473.1:c.561A>C	NP_001363402.1:p.Glu187Asp
NM_001376474.1:c.561A>C	NP_001363403.1:p.Glu187Asp
NM_001376475.1:c.561A>C	NP_001363404.1:p.Glu187Asp
NM_001376476.1:c.561A>C	NP_001363405.1:p.Glu187Asp
NM_001376477.1:c.561A>C	NP_001363406.1:p.Glu187Asp
NM_001376478.1:c.561A>C	NP_001363407.1:p.Glu187Asp
NM_001376479.1:c.561A>C	NP_001363408.1:p.Glu187Asp
NM_001376480.1:c.471A>C	NP_001363409.1:p.Glu157Asp
NM_001376481.1:c.459A>C	NP_001363410.1:p.Glu153Asp
NM_001376482.1:c.405A>C	NP_001363411.1:p.Glu135Asp
NM_001376483.1:c.405A>C	NP_001363412.1:p.Glu135Asp
NM_001376484.1:c.324A>C	NP_001363413.1:p.Glu108Asp
NM_015166.4:c.561A>C MANE Select	NP_055981.1:p.Glu187Asp
NM_139202.3:c.561A>C	NP_631941.1:p.Glu187Asp
NR_164811.1:n.908A>C
NR_164812.1:n.692A>C
NR_164813.1:n.1085A>C