Canonical Allele Identifier: CA16042031
Gene: MLC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370169
ClinVar RCV Id: RCV000411151
dbSNP Id: rs1057516286

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50084820dup , CM000684.2:g.50084820dup GRCh38
NC_000022.10:g.50523249dup , CM000684.1:g.50523249dup GRCh37
NC_000022.9:g.48865376dup NCBI36
NG_009162.1:g.6110dup

Transcript Alleles

HGVS Amino-acid change
NM_015166.3:c.83dup VV NP_055981.1:p.Tyr28Ter
NM_139202.2:c.83dup VV NP_631941.1:p.Tyr28Ter
XM_011530678.1:c.83dup XP_011528980.1:p.Tyr28Ter
XR_430476.2:n.478dup
XM_011530678.2:c.83dup XP_011528980.1:p.Tyr28Ter
XM_017028671.1:c.83dup XP_016884160.1:p.Tyr28Ter
XR_001755180.2:n.588dup
XR_001755181.2:n.356dup
ENST00000311597.9:c.83dup ENSP00000310375.5:p.Tyr28Ter
ENST00000395876.6:c.83dup ENSP00000379216.2:p.Tyr28Ter
ENST00000442311.1:c.83dup ENSP00000401385.1:p.Tyr28Ter