Canonical Allele Identifier: CA10303558

Gene: MLC1

Linked Data

• dbSNP Id: rs148045256
• ExAC: 22:50518325 C / T
• gnomAD v2: 22-50518325-C-T
• gnomAD v3: 22-50079896-C-T
• gnomAD v4: 22-50079896-C-T
• MyVariant Identifiers: chr22:g.50518325C>T (hg19) ; chr22:g.50079896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079896C>T , CM000684.2:g.50079896C>T	GRCh38
NC_000022.10:g.50518325C>T , CM000684.1:g.50518325C>T	GRCh37
NC_000022.9:g.48860452C>T	NCBI36
NG_009162.1:g.11034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.423+22G>A MANE Select	ENSP00000310375.6:n.423+22G>A
ENST00000311597.9:c.423+22G>A	ENSP00000310375.5:n.423+22G>A
ENST00000395876.6:c.423+22G>A	ENSP00000379216.2:n.423+22G>A
ENST00000442311.1:c.333+22G>A	ENSP00000401385.1:n.333+22G>A
NM_015166.3:c.423+22G>A	NP_055981.1:n.423+22G>A
NM_139202.2:c.423+22G>A	NP_631941.1:n.423+22G>A
XM_011530678.1:c.423+22G>A	XP_011528980.1:n.423+22G>A
XR_430476.2:n.818+22G>A
XM_011530678.2:c.423+22G>A	XP_011528980.1:n.423+22G>A
XM_017028671.1:c.423+22G>A	XP_016884160.1:n.423+22G>A
XR_001755180.2:n.928+22G>A
XR_001755181.2:n.696+22G>A
NM_001376472.1:c.423+22G>A	NP_001363401.1:n.423+22G>A
NM_001376473.1:c.423+22G>A	NP_001363402.1:n.423+22G>A
NM_001376474.1:c.423+22G>A	NP_001363403.1:n.423+22G>A
NM_001376475.1:c.423+22G>A	NP_001363404.1:n.423+22G>A
NM_001376476.1:c.423+22G>A	NP_001363405.1:n.423+22G>A
NM_001376477.1:c.423+22G>A	NP_001363406.1:n.423+22G>A
NM_001376478.1:c.423+22G>A	NP_001363407.1:n.423+22G>A
NM_001376479.1:c.423+22G>A	NP_001363408.1:n.423+22G>A
NM_001376480.1:c.333+22G>A	NP_001363409.1:n.333+22G>A
NM_001376481.1:c.321+448G>A	NP_001363410.1:n.321+448G>A
NM_001376482.1:c.268-2394G>A	NP_001363411.1:n.268-2394G>A
NM_001376483.1:c.268-2394G>A	NP_001363412.1:n.268-2394G>A
NM_001376484.1:c.186+22G>A	NP_001363413.1:n.186+22G>A
NM_015166.4:c.423+22G>A MANE Select	NP_055981.1:n.423+22G>A
NM_139202.3:c.423+22G>A	NP_631941.1:n.423+22G>A
NR_164811.1:n.770+22G>A
NR_164812.1:n.554+22G>A
NR_164813.1:n.947+22G>A