Canonical Allele Identifier: CA405682120
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073568
ClinVar RCV Id: RCV004016574
dbSNP Id: rs1973804040
MyVariant Identifiers: chr19:g.39063866A>C (hg19) chr19:g.38573226A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573226A>C , CM000681.2:g.38573226A>C GRCh38
NC_000019.9:g.39063866A>C , CM000681.1:g.39063866A>C GRCh37
NC_000019.8:g.43755706A>C NCBI36
NG_008866.1:g.144527A>C , LRG_766:g.144527A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.984A>C
ENST00000688602.1:c.2381A>C
ENST00000689936.1:c.2353A>C
ENST00000359596.8:c.14048A>C MANE Select ENSP00000352608.2:p.Glu4683Ala
ENST00000355481.8:c.14033A>C ENSP00000347667.3:p.Glu4678Ala
ENST00000359596.7:c.14048A>C ENSP00000352608.2:p.Glu4683Ala
ENST00000360985.7:c.14030A>C ENSP00000354254.4:p.Glu4677Ala
NM_000540.2:c.14048A>C , LRG_766t1:c.14048A>C NP_000531.2:p.Glu4683Ala
NM_001042723.1:c.14033A>C NP_001036188.1:p.Glu4678Ala
XM_006723317.1:c.14030A>C XP_006723380.1:p.Glu4677Ala
XM_006723319.1:c.14015A>C XP_006723382.1:p.Glu4672Ala
XM_011527204.1:c.14045A>C XP_011525506.1:p.Glu4682Ala
XM_011527205.1:c.13961A>C XP_011525507.1:p.Glu4654Ala
XM_006723317.2:c.14030A>C XP_006723380.1:p.Glu4677Ala
XM_006723319.2:c.14015A>C XP_006723382.1:p.Glu4672Ala
XM_011527205.2:c.13961A>C XP_011525507.1:p.Glu4654Ala
NM_000540.3:c.14048A>C MANE Select NP_000531.2:p.Glu4683Ala
NM_001042723.2:c.14033A>C NP_001036188.1:p.Glu4678Ala
Search 100 bp 5'
Search 100 bp 3'