Canonical Allele Identifier: CA405682086

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1054515
• ClinVar RCV Id: RCV001363035 ; RCV002476653
• dbSNP Id: rs1912187896
• gnomAD v3: 19-38573219-A-C
• gnomAD v4: 19-38573219-A-C
• MyVariant Identifiers: chr19:g.39063859A>C (hg19) ; chr19:g.38573219A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573219A>C , CM000681.2:g.38573219A>C	GRCh38
NC_000019.9:g.39063859A>C , CM000681.1:g.39063859A>C	GRCh37
NC_000019.8:g.43755699A>C	NCBI36
NG_008866.1:g.144520A>C , LRG_766:g.144520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.977A>C
ENST00000688602.1:c.2374A>C
ENST00000689936.1:c.2346A>C
ENST00000359596.8:c.14041A>C MANE Select	ENSP00000352608.2:p.Lys4681Gln
ENST00000355481.8:c.14026A>C	ENSP00000347667.3:p.Lys4676Gln
ENST00000359596.7:c.14041A>C	ENSP00000352608.2:p.Lys4681Gln
ENST00000360985.7:c.14023A>C	ENSP00000354254.4:p.Lys4675Gln
NM_000540.2:c.14041A>C , LRG_766t1:c.14041A>C	NP_000531.2:p.Lys4681Gln
NM_001042723.1:c.14026A>C	NP_001036188.1:p.Lys4676Gln
XM_006723317.1:c.14023A>C	XP_006723380.1:p.Lys4675Gln
XM_006723319.1:c.14008A>C	XP_006723382.1:p.Lys4670Gln
XM_011527204.1:c.14038A>C	XP_011525506.1:p.Lys4680Gln
XM_011527205.1:c.13954A>C	XP_011525507.1:p.Lys4652Gln
XM_006723317.2:c.14023A>C	XP_006723380.1:p.Lys4675Gln
XM_006723319.2:c.14008A>C	XP_006723382.1:p.Lys4670Gln
XM_011527205.2:c.13954A>C	XP_011525507.1:p.Lys4652Gln
NM_000540.3:c.14041A>C MANE Select	NP_000531.2:p.Lys4681Gln
NM_001042723.2:c.14026A>C	NP_001036188.1:p.Lys4676Gln