Canonical Allele Identifier: CA16042026

Gene: MLC1

Linked Data

• ClinVar Variation Id: 371564
• ClinVar RCV Id: RCV000410606
• dbSNP Id: rs755271052
• gnomAD v4: 22-50064199-C-G
• MyVariant Identifiers: chr22:g.50502628C>G (hg19) ; chr22:g.50064199C>G (hg38)
• PubMed: PMID:12939431

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50064199C>G , CM000684.2:g.50064199C>G	GRCh38
NC_000022.10:g.50502628C>G , CM000684.1:g.50502628C>G	GRCh37
NC_000022.9:g.48844755C>G	NCBI36
NG_009162.1:g.26731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.895-1G>C MANE Select	ENSP00000310375.6:n.895-1G>C
ENST00000311597.9:c.895-1G>C	ENSP00000310375.5:n.895-1G>C
ENST00000395876.6:c.895-1G>C	ENSP00000379216.2:n.895-1G>C
ENST00000483836.1:n.252-1G>C
NM_015166.3:c.895-1G>C	NP_055981.1:n.895-1G>C
NM_139202.2:c.895-1G>C	NP_631941.1:n.895-1G>C
XM_011530678.1:c.895-2542G>C	XP_011528980.1:n.895-2542G>C
XR_430476.2:n.1290-1G>C
XM_011530678.2:c.895-2542G>C	XP_011528980.1:n.895-2542G>C
XM_017028671.1:c.895-1G>C	XP_016884160.1:n.895-1G>C
XR_001755180.2:n.1400-1G>C
XR_001755181.2:n.1168-1G>C
NM_001376472.1:c.895-1G>C	NP_001363401.1:n.895-1G>C
NM_001376473.1:c.895-1G>C	NP_001363402.1:n.895-1G>C
NM_001376474.1:c.895-1G>C	NP_001363403.1:n.895-1G>C
NM_001376475.1:c.895-1G>C	NP_001363404.1:n.895-1G>C
NM_001376476.1:c.895-1G>C	NP_001363405.1:n.895-1G>C
NM_001376477.1:c.895-1G>C	NP_001363406.1:n.895-1G>C
NM_001376478.1:c.895-1G>C	NP_001363407.1:n.895-1G>C
NM_001376479.1:c.838-1G>C	NP_001363408.1:n.838-1G>C
NM_001376480.1:c.805-1G>C	NP_001363409.1:n.805-1G>C
NM_001376481.1:c.793-1G>C	NP_001363410.1:n.793-1G>C
NM_001376482.1:c.739-1G>C	NP_001363411.1:n.739-1G>C
NM_001376483.1:c.739-1G>C	NP_001363412.1:n.739-1G>C
NM_001376484.1:c.658-1G>C	NP_001363413.1:n.658-1G>C
NM_015166.4:c.895-1G>C MANE Select	NP_055981.1:n.895-1G>C
NM_139202.3:c.895-1G>C	NP_631941.1:n.895-1G>C
NR_164811.1:n.1242-1G>C
NR_164812.1:n.1026-1G>C
NR_164813.1:n.1419-1G>C