Canonical Allele Identifier: CA405679948

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3073198
• ClinVar RCV Id: RCV004015212
• dbSNP Id: rs1439975602
• gnomAD v3: 19-38572029-C-G
• gnomAD v4: 19-38572029-C-G
• MyVariant Identifiers: chr19:g.39062669C>G (hg19) ; chr19:g.38572029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572029C>G , CM000681.2:g.38572029C>G	GRCh38
NC_000019.9:g.39062669C>G , CM000681.1:g.39062669C>G	GRCh37
NC_000019.8:g.43754509C>G	NCBI36
NG_008866.1:g.143330C>G , LRG_766:g.143330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.693C>G
ENST00000688602.1:c.2090C>G
ENST00000689936.1:c.2062C>G
ENST00000359596.8:c.13757C>G MANE Select	ENSP00000352608.2:p.Ser4586Cys
ENST00000355481.8:c.13742C>G	ENSP00000347667.3:p.Ser4581Cys
ENST00000359596.7:c.13757C>G	ENSP00000352608.2:p.Ser4586Cys
ENST00000360985.7:c.13739C>G	ENSP00000354254.4:p.Ser4580Cys
ENST00000593677.1:c.217C>G
NM_000540.2:c.13757C>G , LRG_766t1:c.13757C>G	NP_000531.2:p.Ser4586Cys
NM_001042723.1:c.13742C>G	NP_001036188.1:p.Ser4581Cys
XM_006723317.1:c.13739C>G	XP_006723380.1:p.Ser4580Cys
XM_006723319.1:c.13724C>G	XP_006723382.1:p.Ser4575Cys
XM_011527204.1:c.13754C>G	XP_011525506.1:p.Ser4585Cys
XM_011527205.1:c.13670C>G	XP_011525507.1:p.Ser4557Cys
XM_006723317.2:c.13739C>G	XP_006723380.1:p.Ser4580Cys
XM_006723319.2:c.13724C>G	XP_006723382.1:p.Ser4575Cys
XM_011527205.2:c.13670C>G	XP_011525507.1:p.Ser4557Cys
NM_000540.3:c.13757C>G MANE Select	NP_000531.2:p.Ser4586Cys
NM_001042723.2:c.13742C>G	NP_001036188.1:p.Ser4581Cys