Canonical Allele Identifier: CA405667782

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1210320
• ClinVar RCV Id: RCV001580440
• dbSNP Id: rs1448949048
• gnomAD v4: 19-38499642-C-A
• MyVariant Identifiers: chr19:g.38990282C>A (hg19) ; chr19:g.38499642C>A (hg38)
• ERepo: CA405667782/MONDO:0007783/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499642C>A , CM000681.2:g.38499642C>A	GRCh38
NC_000019.9:g.38990282C>A , CM000681.1:g.38990282C>A	GRCh37
NC_000019.8:g.43682122C>A	NCBI36
NG_008866.1:g.70943C>A , LRG_766:g.70943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7035C>A	ENSP00000471601.2:p.Ser2345Arg
ENST00000359596.8:c.7035C>A MANE Select	ENSP00000352608.2:p.Ser2345Arg
ENST00000355481.8:c.7035C>A	ENSP00000347667.3:p.Ser2345Arg
ENST00000359596.7:c.7035C>A	ENSP00000352608.2:p.Ser2345Arg
ENST00000360985.7:c.7032C>A	ENSP00000354254.4:p.Ser2344Arg
ENST00000594335.5:c.487C>A
NM_000540.2:c.7035C>A , LRG_766t1:c.7035C>A	NP_000531.2:p.Ser2345Arg
NM_001042723.1:c.7035C>A	NP_001036188.1:p.Ser2345Arg
XM_006723317.1:c.7035C>A	XP_006723380.1:p.Ser2345Arg
XM_006723319.1:c.7035C>A	XP_006723382.1:p.Ser2345Arg
XM_011527204.1:c.7032C>A	XP_011525506.1:p.Ser2344Arg
XM_011527205.1:c.7035C>A	XP_011525507.1:p.Ser2345Arg
XM_006723317.2:c.7035C>A	XP_006723380.1:p.Ser2345Arg
XM_006723319.2:c.7035C>A	XP_006723382.1:p.Ser2345Arg
XM_011527205.2:c.7035C>A	XP_011525507.1:p.Ser2345Arg
XR_001753735.1:n.7118C>A
NM_000540.3:c.7035C>A MANE Select	NP_000531.2:p.Ser2345Arg
NM_001042723.2:c.7035C>A	NP_001036188.1:p.Ser2345Arg