Canonical Allele Identifier: CA2410655809

Gene: MLC1

Linked Data

• ClinVar Variation Id: 1089020
• ClinVar RCV Id: RCV001407677
• dbSNP Id: rs2062076157

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079908G>A , CM000684.2:g.50079908G>A	GRCh38
NC_000022.10:g.50518337G>A , CM000684.1:g.50518337G>A	GRCh37
NC_000022.9:g.48860464G>A	NCBI36
NG_009162.1:g.11022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.423+10C>T MANE Select	ENSP00000310375.6:n.423+10C>T
ENST00000311597.9:c.423+10C>T	ENSP00000310375.5:n.423+10C>T
ENST00000395876.6:c.423+10C>T	ENSP00000379216.2:n.423+10C>T
ENST00000442311.1:c.333+10C>T	ENSP00000401385.1:n.333+10C>T
NM_015166.3:c.423+10C>T	NP_055981.1:n.423+10C>T
NM_139202.2:c.423+10C>T	NP_631941.1:n.423+10C>T
XM_011530678.1:c.423+10C>T	XP_011528980.1:n.423+10C>T
XR_430476.2:n.818+10C>T
XM_011530678.2:c.423+10C>T	XP_011528980.1:n.423+10C>T
XM_017028671.1:c.423+10C>T	XP_016884160.1:n.423+10C>T
XR_001755180.2:n.928+10C>T
XR_001755181.2:n.696+10C>T
NM_001376472.1:c.423+10C>T	NP_001363401.1:n.423+10C>T
NM_001376473.1:c.423+10C>T	NP_001363402.1:n.423+10C>T
NM_001376474.1:c.423+10C>T	NP_001363403.1:n.423+10C>T
NM_001376475.1:c.423+10C>T	NP_001363404.1:n.423+10C>T
NM_001376476.1:c.423+10C>T	NP_001363405.1:n.423+10C>T
NM_001376477.1:c.423+10C>T	NP_001363406.1:n.423+10C>T
NM_001376478.1:c.423+10C>T	NP_001363407.1:n.423+10C>T
NM_001376479.1:c.423+10C>T	NP_001363408.1:n.423+10C>T
NM_001376480.1:c.333+10C>T	NP_001363409.1:n.333+10C>T
NM_001376481.1:c.321+436C>T	NP_001363410.1:n.321+436C>T
NM_001376482.1:c.268-2406C>T	NP_001363411.1:n.268-2406C>T
NM_001376483.1:c.268-2406C>T	NP_001363412.1:n.268-2406C>T
NM_001376484.1:c.186+10C>T	NP_001363413.1:n.186+10C>T
NM_015166.4:c.423+10C>T MANE Select	NP_055981.1:n.423+10C>T
NM_139202.3:c.423+10C>T	NP_631941.1:n.423+10C>T
NR_164811.1:n.770+10C>T
NR_164812.1:n.554+10C>T
NR_164813.1:n.947+10C>T