Canonical Allele Identifier: CA405694069

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1513402
• ClinVar RCV Id: RCV002045904
• dbSNP Id: rs2145921970
• MyVariant Identifiers: chr19:g.39077984T>G (hg19) ; chr19:g.38587344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587344T>G , CM000681.2:g.38587344T>G	GRCh38
NC_000019.9:g.39077984T>G , CM000681.1:g.39077984T>G	GRCh37
NC_000019.8:g.43769824T>G	NCBI36
NG_008866.1:g.158645T>G , LRG_766:g.158645T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+768T>G
ENST00000688602.1:c.3374T>G
ENST00000689936.1:c.3346T>G
ENST00000692547.1:n.434T>G
ENST00000359596.8:c.15041T>G MANE Select	ENSP00000352608.2:p.Met5014Arg
ENST00000355481.8:c.15026T>G	ENSP00000347667.3:p.Met5009Arg
ENST00000359596.7:c.15041T>G	ENSP00000352608.2:p.Met5014Arg
ENST00000360985.7:c.15023T>G	ENSP00000354254.4:p.Met5008Arg
NM_000540.2:c.15041T>G , LRG_766t1:c.15041T>G	NP_000531.2:p.Met5014Arg
NM_001042723.1:c.15026T>G	NP_001036188.1:p.Met5009Arg
XM_006723317.1:c.15023T>G	XP_006723380.1:p.Met5008Arg
XM_006723319.1:c.15008T>G	XP_006723382.1:p.Met5003Arg
XM_011527204.1:c.15038T>G	XP_011525506.1:p.Met5013Arg
XM_011527205.1:c.14954T>G	XP_011525507.1:p.Met4985Arg
XM_006723317.2:c.15023T>G	XP_006723380.1:p.Met5008Arg
XM_006723319.2:c.15008T>G	XP_006723382.1:p.Met5003Arg
XM_011527205.2:c.14954T>G	XP_011525507.1:p.Met4985Arg
NM_000540.3:c.15041T>G MANE Select	NP_000531.2:p.Met5014Arg
NM_001042723.2:c.15026T>G	NP_001036188.1:p.Met5009Arg