Canonical Allele Identifier: CA16042025

Gene: MLC1

Linked Data

• ClinVar Variation Id: 370408
• ClinVar RCV Id: RCV000409034 ; RCV001861366 ; RCV004017600
• dbSNP Id: rs1057516465
• gnomAD v2: 22-50502549-G-A
• gnomAD v3: 22-50064120-G-A
• gnomAD v4: 22-50064120-G-A
• MyVariant Identifiers: chr22:g.50502549G>A (hg19) ; chr22:g.50064120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50064120G>A , CM000684.2:g.50064120G>A	GRCh38
NC_000022.10:g.50502549G>A , CM000684.1:g.50502549G>A	GRCh37
NC_000022.9:g.48844676G>A	NCBI36
NG_009162.1:g.26810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.973C>T MANE Select	ENSP00000310375.6:p.Gln325Ter
ENST00000311597.9:c.973C>T	ENSP00000310375.5:p.Gln325Ter
ENST00000395876.6:c.973C>T	ENSP00000379216.2:p.Gln325Ter
ENST00000483836.1:n.330C>T
NM_015166.3:c.973C>T	NP_055981.1:p.Gln325Ter
NM_139202.2:c.973C>T	NP_631941.1:p.Gln325Ter
XM_011530678.1:c.895-2463C>T	XP_011528980.1:n.895-2463C>T
XR_430476.2:n.1368C>T
XM_011530678.2:c.895-2463C>T	XP_011528980.1:n.895-2463C>T
XM_017028671.1:c.973C>T	XP_016884160.1:p.Gln325Ter
XR_001755180.2:n.1478C>T
XR_001755181.2:n.1246C>T
NM_001376472.1:c.973C>T	NP_001363401.1:p.Gln325Ter
NM_001376473.1:c.973C>T	NP_001363402.1:p.Gln325Ter
NM_001376474.1:c.973C>T	NP_001363403.1:p.Gln325Ter
NM_001376475.1:c.973C>T	NP_001363404.1:p.Gln325Ter
NM_001376476.1:c.973C>T	NP_001363405.1:p.Gln325Ter
NM_001376477.1:c.973C>T	NP_001363406.1:p.Gln325Ter
NM_001376478.1:c.973C>T	NP_001363407.1:p.Gln325Ter
NM_001376479.1:c.916C>T	NP_001363408.1:p.Gln306Ter
NM_001376480.1:c.883C>T	NP_001363409.1:p.Gln295Ter
NM_001376481.1:c.871C>T	NP_001363410.1:p.Gln291Ter
NM_001376482.1:c.817C>T	NP_001363411.1:p.Gln273Ter
NM_001376483.1:c.817C>T	NP_001363412.1:p.Gln273Ter
NM_001376484.1:c.736C>T	NP_001363413.1:p.Gln246Ter
NM_015166.4:c.973C>T MANE Select	NP_055981.1:p.Gln325Ter
NM_139202.3:c.973C>T	NP_631941.1:p.Gln325Ter
NR_164811.1:n.1320C>T
NR_164812.1:n.1104C>T
NR_164813.1:n.1497C>T