Canonical Allele Identifier: CA405687229
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590453
ClinVar RCV Id: RCV000721371 RCV001449982
dbSNP Id: rs193922873
MyVariant Identifiers: chr19:g.39070715G>A (hg19) chr19:g.38580075G>A (hg38)
ERepo: CA405687229/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580075G>A , CM000681.2:g.38580075G>A GRCh38
NC_000019.9:g.39070715G>A , CM000681.1:g.39070715G>A GRCh37
NC_000019.8:g.43762555G>A NCBI36
NG_008866.1:g.151376G>A , LRG_766:g.151376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1394G>A
ENST00000688602.1:c.2791G>A
ENST00000689936.1:c.2763G>A
ENST00000359596.8:c.14458G>A MANE Select ENSP00000352608.2:p.Gly4820Arg
ENST00000355481.8:c.14443G>A ENSP00000347667.3:p.Gly4815Arg
ENST00000359596.7:c.14458G>A ENSP00000352608.2:p.Gly4820Arg
ENST00000360985.7:c.14440G>A ENSP00000354254.4:p.Gly4814Arg
NM_000540.2:c.14458G>A , LRG_766t1:c.14458G>A NP_000531.2:p.Gly4820Arg
NM_001042723.1:c.14443G>A NP_001036188.1:p.Gly4815Arg
XM_006723317.1:c.14440G>A XP_006723380.1:p.Gly4814Arg
XM_006723319.1:c.14425G>A XP_006723382.1:p.Gly4809Arg
XM_011527204.1:c.14455G>A XP_011525506.1:p.Gly4819Arg
XM_011527205.1:c.14371G>A XP_011525507.1:p.Gly4791Arg
XM_006723317.2:c.14440G>A XP_006723380.1:p.Gly4814Arg
XM_006723319.2:c.14425G>A XP_006723382.1:p.Gly4809Arg
XM_011527205.2:c.14371G>A XP_011525507.1:p.Gly4791Arg
NM_000540.3:c.14458G>A MANE Select NP_000531.2:p.Gly4820Arg
NM_001042723.2:c.14443G>A NP_001036188.1:p.Gly4815Arg
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