Canonical Allele Identifier: CA2488750

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 475308
• ClinVar RCV Id: RCV000525027 ; RCV001576061 ; RCV002526712 ; RCV003905455
• dbSNP Id: rs149196259
• ExAC: 3:69167987 C / T
• gnomAD v2: 3-69167987-C-T
• gnomAD v3: 3-69118836-C-T
• gnomAD v4: 3-69118836-C-T
• MyVariant Identifiers: chr3:g.69167987C>T (hg19) ; chr3:g.69118836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69118836C>T , CM000665.2:g.69118836C>T	GRCh38
NC_000003.11:g.69167987C>T , CM000665.1:g.69167987C>T	GRCh37
NC_000003.10:g.69250677C>T	NCBI36
NG_041828.1:g.8760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.1519G>A MANE Select	ENSP00000414670.3:p.Glu507Lys
ENST00000420581.6:c.1519G>A	ENSP00000414670.2:p.Glu507Lys
ENST00000475434.1:c.1519G>A	ENSP00000418645.1:p.Glu507Lys
ENST00000489031.5:c.1519G>A	ENSP00000417210.1:p.Glu507Lys
NM_001304418.1:c.1519G>A	NP_001291347.1:p.Glu507Lys
NM_198271.4:c.1519G>A	NP_938012.2:p.Glu507Lys
NM_001304418.3:c.1519G>A	NP_001291347.1:p.Glu507Lys
NM_198271.5:c.1519G>A MANE Select	NP_938012.2:p.Glu507Lys