Canonical Allele Identifier: CA219970

Gene: MLC1

Linked Data

• ClinVar Variation Id: 68797
• ClinVar RCV Id: RCV000059749 ; RCV000411937
• dbSNP Id: rs281875313
• gnomAD v4: 22-50064134-G-T
• MyVariant Identifiers: chr22:g.50502563G>T (hg19) ; chr22:g.50064134G>T (hg38)
• PubMed: PMID:16652334 ; PMID:21555057

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50064134G>T , CM000684.2:g.50064134G>T	GRCh38
NC_000022.10:g.50502563G>T , CM000684.1:g.50502563G>T	GRCh37
NC_000022.9:g.48844690G>T	NCBI36
NG_009162.1:g.26796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.959C>A MANE Select	ENSP00000310375.6:p.Thr320Lys
ENST00000311597.9:c.959C>A	ENSP00000310375.5:p.Thr320Lys
ENST00000395876.6:c.959C>A	ENSP00000379216.2:p.Thr320Lys
ENST00000483836.1:n.316C>A
NM_015166.3:c.959C>A	NP_055981.1:p.Thr320Lys
NM_139202.2:c.959C>A	NP_631941.1:p.Thr320Lys
XM_011530678.1:c.895-2477C>A	XP_011528980.1:n.895-2477C>A
XR_430476.2:n.1354C>A
XM_011530678.2:c.895-2477C>A	XP_011528980.1:n.895-2477C>A
XM_017028671.1:c.959C>A	XP_016884160.1:p.Thr320Lys
XR_001755180.2:n.1464C>A
XR_001755181.2:n.1232C>A
NM_001376472.1:c.959C>A	NP_001363401.1:p.Thr320Lys
NM_001376473.1:c.959C>A	NP_001363402.1:p.Thr320Lys
NM_001376474.1:c.959C>A	NP_001363403.1:p.Thr320Lys
NM_001376475.1:c.959C>A	NP_001363404.1:p.Thr320Lys
NM_001376476.1:c.959C>A	NP_001363405.1:p.Thr320Lys
NM_001376477.1:c.959C>A	NP_001363406.1:p.Thr320Lys
NM_001376478.1:c.959C>A	NP_001363407.1:p.Thr320Lys
NM_001376479.1:c.902C>A	NP_001363408.1:p.Thr301Lys
NM_001376480.1:c.869C>A	NP_001363409.1:p.Thr290Lys
NM_001376481.1:c.857C>A	NP_001363410.1:p.Thr286Lys
NM_001376482.1:c.803C>A	NP_001363411.1:p.Thr268Lys
NM_001376483.1:c.803C>A	NP_001363412.1:p.Thr268Lys
NM_001376484.1:c.722C>A	NP_001363413.1:p.Thr241Lys
NM_015166.4:c.959C>A MANE Select	NP_055981.1:p.Thr320Lys
NM_139202.3:c.959C>A	NP_631941.1:p.Thr320Lys
NR_164811.1:n.1306C>A
NR_164812.1:n.1090C>A
NR_164813.1:n.1483C>A