Canonical Allele Identifier: CA10303389

Gene: MLC1

Linked Data

• ClinVar Variation Id: 342105
• ClinVar RCV Id: RCV000671762 ; RCV001456100 ; RCV001833466
• dbSNP Id: rs751850836
• ExAC: 22:50509017 G / T
• gnomAD v2: 22-50509017-G-T
• gnomAD v4: 22-50070588-G-T
• MyVariant Identifiers: chr22:g.50509017G>T (hg19) ; chr22:g.50070588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50070588G>T , CM000684.2:g.50070588G>T	GRCh38
NC_000022.10:g.50509017G>T , CM000684.1:g.50509017G>T	GRCh37
NC_000022.9:g.48851144G>T	NCBI36
NG_009162.1:g.20342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.715-5C>A MANE Select	ENSP00000310375.6:n.715-5C>A
ENST00000311597.9:c.715-5C>A	ENSP00000310375.5:n.715-5C>A
ENST00000395876.6:c.715-5C>A	ENSP00000379216.2:n.715-5C>A
ENST00000442311.1:c.625-5C>A	ENSP00000401385.1:n.625-5C>A
ENST00000470008.1:n.195-5C>A
ENST00000483836.1:n.72-5C>A
NM_015166.3:c.715-5C>A	NP_055981.1:n.715-5C>A
NM_139202.2:c.715-5C>A	NP_631941.1:n.715-5C>A
XM_011530678.1:c.715-5C>A	XP_011528980.1:n.715-5C>A
XR_430476.2:n.1110-5C>A
XM_011530678.2:c.715-5C>A	XP_011528980.1:n.715-5C>A
XM_017028671.1:c.715-5C>A	XP_016884160.1:n.715-5C>A
XR_001755180.2:n.1220-5C>A
XR_001755181.2:n.988-5C>A
NM_001376472.1:c.715-5C>A	NP_001363401.1:n.715-5C>A
NM_001376473.1:c.715-5C>A	NP_001363402.1:n.715-5C>A
NM_001376474.1:c.715-5C>A	NP_001363403.1:n.715-5C>A
NM_001376475.1:c.715-5C>A	NP_001363404.1:n.715-5C>A
NM_001376476.1:c.715-5C>A	NP_001363405.1:n.715-5C>A
NM_001376477.1:c.715-5C>A	NP_001363406.1:n.715-5C>A
NM_001376478.1:c.715-5C>A	NP_001363407.1:n.715-5C>A
NM_001376479.1:c.715-2033C>A	NP_001363408.1:n.715-2033C>A
NM_001376480.1:c.625-5C>A	NP_001363409.1:n.625-5C>A
NM_001376481.1:c.613-5C>A	NP_001363410.1:n.613-5C>A
NM_001376482.1:c.559-5C>A	NP_001363411.1:n.559-5C>A
NM_001376483.1:c.559-5C>A	NP_001363412.1:n.559-5C>A
NM_001376484.1:c.478-5C>A	NP_001363413.1:n.478-5C>A
NM_015166.4:c.715-5C>A MANE Select	NP_055981.1:n.715-5C>A
NM_139202.3:c.715-5C>A	NP_631941.1:n.715-5C>A
NR_164811.1:n.1062-5C>A
NR_164812.1:n.846-5C>A
NR_164813.1:n.1239-5C>A