Canonical Allele Identifier: CA2657477858

Gene: MLC1

Linked Data

• gnomAD v4: 22-50079880-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079880G>A , CM000684.2:g.50079880G>A	GRCh38
NC_000022.10:g.50518309G>A , CM000684.1:g.50518309G>A	GRCh37
NC_000022.9:g.48860436G>A	NCBI36
NG_009162.1:g.11050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.423+38C>T MANE Select	ENSP00000310375.6:n.423+38C>T
ENST00000311597.9:c.423+38C>T	ENSP00000310375.5:n.423+38C>T
ENST00000395876.6:c.423+38C>T	ENSP00000379216.2:n.423+38C>T
ENST00000442311.1:c.333+38C>T	ENSP00000401385.1:n.333+38C>T
NM_015166.3:c.423+38C>T	NP_055981.1:n.423+38C>T
NM_139202.2:c.423+38C>T	NP_631941.1:n.423+38C>T
XM_011530678.1:c.423+38C>T	XP_011528980.1:n.423+38C>T
XR_430476.2:n.818+38C>T
XM_011530678.2:c.423+38C>T	XP_011528980.1:n.423+38C>T
XM_017028671.1:c.423+38C>T	XP_016884160.1:n.423+38C>T
XR_001755180.2:n.928+38C>T
XR_001755181.2:n.696+38C>T
NM_001376472.1:c.423+38C>T	NP_001363401.1:n.423+38C>T
NM_001376473.1:c.423+38C>T	NP_001363402.1:n.423+38C>T
NM_001376474.1:c.423+38C>T	NP_001363403.1:n.423+38C>T
NM_001376475.1:c.423+38C>T	NP_001363404.1:n.423+38C>T
NM_001376476.1:c.423+38C>T	NP_001363405.1:n.423+38C>T
NM_001376477.1:c.423+38C>T	NP_001363406.1:n.423+38C>T
NM_001376478.1:c.423+38C>T	NP_001363407.1:n.423+38C>T
NM_001376479.1:c.423+38C>T	NP_001363408.1:n.423+38C>T
NM_001376480.1:c.333+38C>T	NP_001363409.1:n.333+38C>T
NM_001376481.1:c.321+464C>T	NP_001363410.1:n.321+464C>T
NM_001376482.1:c.268-2378C>T	NP_001363411.1:n.268-2378C>T
NM_001376483.1:c.268-2378C>T	NP_001363412.1:n.268-2378C>T
NM_001376484.1:c.186+38C>T	NP_001363413.1:n.186+38C>T
NM_015166.4:c.423+38C>T MANE Select	NP_055981.1:n.423+38C>T
NM_139202.3:c.423+38C>T	NP_631941.1:n.423+38C>T
NR_164811.1:n.770+38C>T
NR_164812.1:n.554+38C>T
NR_164813.1:n.947+38C>T