Canonical Allele Identifier: CA10303322

Gene: MLC1

Linked Data

• dbSNP Id: rs530525554
• ExAC: 22:50506825 A / G
• gnomAD v2: 22-50506825-A-G
• gnomAD v3: 22-50068396-A-G
• gnomAD v4: 22-50068396-A-G
• COSMIC: COSN20055967
• MyVariant Identifiers: chr22:g.50506825A>G (hg19) ; chr22:g.50068396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068396A>G , CM000684.2:g.50068396A>G	GRCh38
NC_000022.10:g.50506825A>G , CM000684.1:g.50506825A>G	GRCh37
NC_000022.9:g.48848952A>G	NCBI36
NG_009162.1:g.22534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.894+37T>C MANE Select	ENSP00000310375.6:n.894+37T>C
ENST00000311597.9:c.894+37T>C	ENSP00000310375.5:n.894+37T>C
ENST00000395876.6:c.894+37T>C	ENSP00000379216.2:n.894+37T>C
ENST00000483836.1:n.251+37T>C
NM_015166.3:c.894+37T>C	NP_055981.1:n.894+37T>C
NM_139202.2:c.894+37T>C	NP_631941.1:n.894+37T>C
XM_011530678.1:c.894+37T>C	XP_011528980.1:n.894+37T>C
XR_430476.2:n.1289+37T>C
XM_011530678.2:c.894+37T>C	XP_011528980.1:n.894+37T>C
XM_017028671.1:c.894+37T>C	XP_016884160.1:n.894+37T>C
XR_001755180.2:n.1399+37T>C
XR_001755181.2:n.1167+37T>C
NM_001376472.1:c.894+37T>C	NP_001363401.1:n.894+37T>C
NM_001376473.1:c.894+37T>C	NP_001363402.1:n.894+37T>C
NM_001376474.1:c.894+37T>C	NP_001363403.1:n.894+37T>C
NM_001376475.1:c.894+37T>C	NP_001363404.1:n.894+37T>C
NM_001376476.1:c.894+37T>C	NP_001363405.1:n.894+37T>C
NM_001376477.1:c.894+37T>C	NP_001363406.1:n.894+37T>C
NM_001376478.1:c.894+37T>C	NP_001363407.1:n.894+37T>C
NM_001376479.1:c.837+37T>C	NP_001363408.1:n.837+37T>C
NM_001376480.1:c.804+37T>C	NP_001363409.1:n.804+37T>C
NM_001376481.1:c.792+37T>C	NP_001363410.1:n.792+37T>C
NM_001376482.1:c.738+37T>C	NP_001363411.1:n.738+37T>C
NM_001376483.1:c.738+37T>C	NP_001363412.1:n.738+37T>C
NM_001376484.1:c.657+37T>C	NP_001363413.1:n.657+37T>C
NM_015166.4:c.894+37T>C MANE Select	NP_055981.1:n.894+37T>C
NM_139202.3:c.894+37T>C	NP_631941.1:n.894+37T>C
NR_164811.1:n.1241+37T>C
NR_164812.1:n.1025+37T>C
NR_164813.1:n.1418+37T>C