Canonical Allele Identifier: CA405668010
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478267
ClinVar RCV Id: RCV000557457 RCV001591311
dbSNP Id: rs2228071
MyVariant Identifiers: chr19:g.38990336C>G (hg19) chr19:g.38499696C>G (hg38)
ERepo: CA405668010/MONDO:0007783/012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499696C>G , CM000681.2:g.38499696C>G GRCh38
NC_000019.9:g.38990336C>G , CM000681.1:g.38990336C>G GRCh37
NC_000019.8:g.43682176C>G NCBI36
NG_008866.1:g.70997C>G , LRG_766:g.70997C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7089C>G ENSP00000471601.2:p.Cys2363Trp
ENST00000359596.8:c.7089C>G MANE Select ENSP00000352608.2:p.Cys2363Trp
ENST00000355481.8:c.7089C>G ENSP00000347667.3:p.Cys2363Trp
ENST00000359596.7:c.7089C>G ENSP00000352608.2:p.Cys2363Trp
ENST00000360985.7:c.7086C>G ENSP00000354254.4:p.Cys2362Trp
ENST00000594335.5:c.541C>G
NM_000540.2:c.7089C>G , LRG_766t1:c.7089C>G NP_000531.2:p.Cys2363Trp
NM_001042723.1:c.7089C>G NP_001036188.1:p.Cys2363Trp
XM_006723317.1:c.7089C>G XP_006723380.1:p.Cys2363Trp
XM_006723319.1:c.7089C>G XP_006723382.1:p.Cys2363Trp
XM_011527204.1:c.7086C>G XP_011525506.1:p.Cys2362Trp
XM_011527205.1:c.7089C>G XP_011525507.1:p.Cys2363Trp
XM_006723317.2:c.7089C>G XP_006723380.1:p.Cys2363Trp
XM_006723319.2:c.7089C>G XP_006723382.1:p.Cys2363Trp
XM_011527205.2:c.7089C>G XP_011525507.1:p.Cys2363Trp
XR_001753735.1:n.7172C>G
NM_000540.3:c.7089C>G MANE Select NP_000531.2:p.Cys2363Trp
NM_001042723.2:c.7089C>G NP_001036188.1:p.Cys2363Trp
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