Canonical Allele Identifier: CA405694107

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3072449
• ClinVar RCV Id: RCV004013471
• dbSNP Id: rs1355987705
• gnomAD v3: 19-38587349-C-G
• gnomAD v4: 19-38587349-C-G
• MyVariant Identifiers: chr19:g.39077989C>G (hg19) ; chr19:g.38587349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587349C>G , CM000681.2:g.38587349C>G	GRCh38
NC_000019.9:g.39077989C>G , CM000681.1:g.39077989C>G	GRCh37
NC_000019.8:g.43769829C>G	NCBI36
NG_008866.1:g.158650C>G , LRG_766:g.158650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+773C>G
ENST00000688602.1:c.3379C>G
ENST00000689936.1:c.3351C>G
ENST00000692547.1:n.439C>G
ENST00000359596.8:c.15046C>G MANE Select	ENSP00000352608.2:p.Gln5016Glu
ENST00000355481.8:c.15031C>G	ENSP00000347667.3:p.Gln5011Glu
ENST00000359596.7:c.15046C>G	ENSP00000352608.2:p.Gln5016Glu
ENST00000360985.7:c.15028C>G	ENSP00000354254.4:p.Gln5010Glu
NM_000540.2:c.15046C>G , LRG_766t1:c.15046C>G	NP_000531.2:p.Gln5016Glu
NM_001042723.1:c.15031C>G	NP_001036188.1:p.Gln5011Glu
XM_006723317.1:c.15028C>G	XP_006723380.1:p.Gln5010Glu
XM_006723319.1:c.15013C>G	XP_006723382.1:p.Gln5005Glu
XM_011527204.1:c.15043C>G	XP_011525506.1:p.Gln5015Glu
XM_011527205.1:c.14959C>G	XP_011525507.1:p.Gln4987Glu
XM_006723317.2:c.15028C>G	XP_006723380.1:p.Gln5010Glu
XM_006723319.2:c.15013C>G	XP_006723382.1:p.Gln5005Glu
XM_011527205.2:c.14959C>G	XP_011525507.1:p.Gln4987Glu
NM_000540.3:c.15046C>G MANE Select	NP_000531.2:p.Gln5016Glu
NM_001042723.2:c.15031C>G	NP_001036188.1:p.Gln5011Glu