Canonical Allele Identifier: CA412109375

Gene: MLC1

Linked Data

• ClinVar Variation Id: 242875
• ClinVar RCV Id: RCV000491615
• dbSNP Id: rs1114167286
• COSMIC: COSM5554900
• MyVariant Identifiers: chr22:g.50512742C>A (hg19) ; chr22:g.50074313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074313C>A , CM000684.2:g.50074313C>A	GRCh38
NC_000022.10:g.50512742C>A , CM000684.1:g.50512742C>A	GRCh37
NC_000022.9:g.48854869C>A	NCBI36
NG_009162.1:g.16617G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311597.10:c.617G>T MANE Select	ENSP00000310375.6:p.Gly206Val
ENST00000311597.9:c.617G>T	ENSP00000310375.5:p.Gly206Val
ENST00000395876.6:c.617G>T	ENSP00000379216.2:p.Gly206Val
ENST00000442311.1:c.527G>T	ENSP00000401385.1:p.Gly176Val
ENST00000470008.1:n.97G>T
NM_015166.3:c.617G>T	NP_055981.1:p.Gly206Val
NM_139202.2:c.617G>T	NP_631941.1:p.Gly206Val
XM_011530678.1:c.617G>T	XP_011528980.1:p.Gly206Val
XR_430476.2:n.1012G>T
XM_011530678.2:c.617G>T	XP_011528980.1:p.Gly206Val
XM_017028671.1:c.617G>T	XP_016884160.1:p.Gly206Val
XR_001755180.2:n.1122G>T
XR_001755181.2:n.890G>T
NM_001376472.1:c.617G>T	NP_001363401.1:p.Gly206Val
NM_001376473.1:c.617G>T	NP_001363402.1:p.Gly206Val
NM_001376474.1:c.617G>T	NP_001363403.1:p.Gly206Val
NM_001376475.1:c.617G>T	NP_001363404.1:p.Gly206Val
NM_001376476.1:c.617G>T	NP_001363405.1:p.Gly206Val
NM_001376477.1:c.617G>T	NP_001363406.1:p.Gly206Val
NM_001376478.1:c.617G>T	NP_001363407.1:p.Gly206Val
NM_001376479.1:c.617G>T	NP_001363408.1:p.Gly206Val
NM_001376480.1:c.527G>T	NP_001363409.1:p.Gly176Val
NM_001376481.1:c.515G>T	NP_001363410.1:p.Gly172Val
NM_001376482.1:c.461G>T	NP_001363411.1:p.Gly154Val
NM_001376483.1:c.461G>T	NP_001363412.1:p.Gly154Val
NM_001376484.1:c.380G>T	NP_001363413.1:p.Gly127Val
NM_015166.4:c.617G>T MANE Select	NP_055981.1:p.Gly206Val
NM_139202.3:c.617G>T	NP_631941.1:p.Gly206Val
NR_164811.1:n.964G>T
NR_164812.1:n.748G>T
NR_164813.1:n.1141G>T