Canonical Allele Identifier: CA405687574
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590455
ClinVar RCV Id: RCV000721378
dbSNP Id: rs1568604966

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580377T>G , CM000681.2:g.38580377T>G GRCh38
NC_000019.9:g.39071017T>G , CM000681.1:g.39071017T>G GRCh37
NC_000019.8:g.43762857T>G NCBI36
NG_008866.1:g.151678T>G , LRG_766:g.151678T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1455T>G
ENST00000688602.1:c.2852T>G
ENST00000689936.1:c.2824T>G
ENST00000359596.8:c.14519T>G MANE Select ENSP00000352608.2:p.Met4840Arg
ENST00000355481.8:c.14504T>G ENSP00000347667.3:p.Met4835Arg
ENST00000359596.7:c.14519T>G ENSP00000352608.2:p.Met4840Arg
ENST00000360985.7:c.14501T>G ENSP00000354254.4:p.Met4834Arg
NM_000540.2:c.14519T>G , LRG_766t1:c.14519T>G NP_000531.2:p.Met4840Arg
NM_001042723.1:c.14504T>G NP_001036188.1:p.Met4835Arg
XM_006723317.1:c.14501T>G XP_006723380.1:p.Met4834Arg
XM_006723319.1:c.14486T>G XP_006723382.1:p.Met4829Arg
XM_011527204.1:c.14516T>G XP_011525506.1:p.Met4839Arg
XM_011527205.1:c.14432T>G XP_011525507.1:p.Met4811Arg
XM_006723317.2:c.14501T>G XP_006723380.1:p.Met4834Arg
XM_006723319.2:c.14486T>G XP_006723382.1:p.Met4829Arg
XM_011527205.2:c.14432T>G XP_011525507.1:p.Met4811Arg
NM_000540.3:c.14519T>G MANE Select NP_000531.2:p.Met4840Arg
NM_001042723.2:c.14504T>G NP_001036188.1:p.Met4835Arg