Canonical Allele Identifier: CA405670927
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590413
ClinVar RCV Id: RCV000721286 RCV001449995
dbSNP Id: rs1568581848
gnomAD v4: 19-38565023-T-G
MyVariant Identifiers: chr19:g.39055663T>G (hg19) chr19:g.38565023T>G (hg38)
ERepo: CA405670927/MONDO:0018493/012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565023T>G , CM000681.2:g.38565023T>G GRCh38
NC_000019.9:g.39055663T>G , CM000681.1:g.39055663T>G GRCh37
NC_000019.8:g.43747503T>G NCBI36
NG_008866.1:g.136324T>G , LRG_766:g.136324T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1099T>G
ENST00000689936.1:c.1081T>G
ENST00000359596.8:c.12689T>G MANE Select ENSP00000352608.2:p.Met4230Arg
ENST00000355481.8:c.12674T>G ENSP00000347667.3:p.Met4225Arg
ENST00000359596.7:c.12689T>G ENSP00000352608.2:p.Met4230Arg
ENST00000360985.7:c.12671T>G ENSP00000354254.4:p.Met4224Arg
ENST00000594335.5:c.6058T>G
NM_000540.2:c.12689T>G , LRG_766t1:c.12689T>G NP_000531.2:p.Met4230Arg
NM_001042723.1:c.12674T>G NP_001036188.1:p.Met4225Arg
XM_006723317.1:c.12671T>G XP_006723380.1:p.Met4224Arg
XM_006723319.1:c.12656T>G XP_006723382.1:p.Met4219Arg
XM_011527204.1:c.12686T>G XP_011525506.1:p.Met4229Arg
XM_011527205.1:c.12689T>G XP_011525507.1:p.Met4230Arg
XM_006723317.2:c.12671T>G XP_006723380.1:p.Met4224Arg
XM_006723319.2:c.12656T>G XP_006723382.1:p.Met4219Arg
XM_011527205.2:c.12689T>G XP_011525507.1:p.Met4230Arg
NM_000540.3:c.12689T>G MANE Select NP_000531.2:p.Met4230Arg
NM_001042723.2:c.12674T>G NP_001036188.1:p.Met4225Arg
Search 100 bp 5'
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