Canonical Allele Identifier: CA405694113

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3074028
• ClinVar RCV Id: RCV004012570
• dbSNP Id: rs1310013603
• MyVariant Identifiers: chr19:g.39077990A>G (hg19) ; chr19:g.38587350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587350A>G , CM000681.2:g.38587350A>G	GRCh38
NC_000019.9:g.39077990A>G , CM000681.1:g.39077990A>G	GRCh37
NC_000019.8:g.43769830A>G	NCBI36
NG_008866.1:g.158651A>G , LRG_766:g.158651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+774A>G
ENST00000688602.1:c.3380A>G
ENST00000689936.1:c.3352A>G
ENST00000692547.1:n.440A>G
ENST00000359596.8:c.15047A>G MANE Select	ENSP00000352608.2:p.Gln5016Arg
ENST00000355481.8:c.15032A>G	ENSP00000347667.3:p.Gln5011Arg
ENST00000359596.7:c.15047A>G	ENSP00000352608.2:p.Gln5016Arg
ENST00000360985.7:c.15029A>G	ENSP00000354254.4:p.Gln5010Arg
NM_000540.2:c.15047A>G , LRG_766t1:c.15047A>G	NP_000531.2:p.Gln5016Arg
NM_001042723.1:c.15032A>G	NP_001036188.1:p.Gln5011Arg
XM_006723317.1:c.15029A>G	XP_006723380.1:p.Gln5010Arg
XM_006723319.1:c.15014A>G	XP_006723382.1:p.Gln5005Arg
XM_011527204.1:c.15044A>G	XP_011525506.1:p.Gln5015Arg
XM_011527205.1:c.14960A>G	XP_011525507.1:p.Gln4987Arg
XM_006723317.2:c.15029A>G	XP_006723380.1:p.Gln5010Arg
XM_006723319.2:c.15014A>G	XP_006723382.1:p.Gln5005Arg
XM_011527205.2:c.14960A>G	XP_011525507.1:p.Gln4987Arg
NM_000540.3:c.15047A>G MANE Select	NP_000531.2:p.Gln5016Arg
NM_001042723.2:c.15032A>G	NP_001036188.1:p.Gln5011Arg