Canonical Allele Identifier: CA342170

Gene: MLC1

Linked Data

• ClinVar Variation Id: 21522
• ClinVar RCV Id: RCV000020712 ; RCV000626926 ; RCV002513148
• dbSNP Id: rs80358243
• gnomAD v2: 22-50521612-A-T
• gnomAD v4: 22-50083183-A-T
• MyVariant Identifiers: chr22:g.50521612A>T (hg19) ; chr22:g.50083183A>T (hg38)
• PubMed: PMID:16652334 ; PMID:20301707 ; PMID:23851226

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50083183A>T , CM000684.2:g.50083183A>T	GRCh38
NC_000022.10:g.50521612A>T , CM000684.1:g.50521612A>T	GRCh37
NC_000022.9:g.48863739A>T	NCBI36
NG_009162.1:g.7747T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.178-10T>A MANE Select	ENSP00000310375.6:n.178-10T>A
ENST00000311597.9:c.178-10T>A	ENSP00000310375.5:n.178-10T>A
ENST00000395876.6:c.178-10T>A	ENSP00000379216.2:n.178-10T>A
ENST00000442311.1:c.177+1543T>A	ENSP00000401385.1:n.177+1543T>A
NM_015166.3:c.178-10T>A	NP_055981.1:n.178-10T>A
NM_139202.2:c.178-10T>A	NP_631941.1:n.178-10T>A
XM_011530678.1:c.178-10T>A	XP_011528980.1:n.178-10T>A
XR_430476.2:n.573-10T>A
XM_011530678.2:c.178-10T>A	XP_011528980.1:n.178-10T>A
XM_017028671.1:c.178-10T>A	XP_016884160.1:n.178-10T>A
XR_001755180.2:n.683-10T>A
XR_001755181.2:n.451-10T>A
NM_001376472.1:c.178-10T>A	NP_001363401.1:n.178-10T>A
NM_001376473.1:c.178-10T>A	NP_001363402.1:n.178-10T>A
NM_001376474.1:c.178-10T>A	NP_001363403.1:n.178-10T>A
NM_001376475.1:c.178-10T>A	NP_001363404.1:n.178-10T>A
NM_001376476.1:c.178-10T>A	NP_001363405.1:n.178-10T>A
NM_001376477.1:c.178-10T>A	NP_001363406.1:n.178-10T>A
NM_001376478.1:c.178-10T>A	NP_001363407.1:n.178-10T>A
NM_001376479.1:c.178-10T>A	NP_001363408.1:n.178-10T>A
NM_001376480.1:c.177+1543T>A	NP_001363409.1:n.177+1543T>A
NM_001376481.1:c.178-10T>A	NP_001363410.1:n.178-10T>A
NM_001376482.1:c.178-10T>A	NP_001363411.1:n.178-10T>A
NM_001376483.1:c.178-10T>A	NP_001363412.1:n.178-10T>A
NM_001376484.1:c.-58-12T>A	NP_001363413.1:n.-58-12T>A
NM_015166.4:c.178-10T>A MANE Select	NP_055981.1:n.178-10T>A
NM_139202.3:c.178-10T>A	NP_631941.1:n.178-10T>A
NR_164811.1:n.525-10T>A
NR_164812.1:n.309-10T>A
NR_164813.1:n.702-10T>A