Canonical Allele Identifier: CA024198

Gene: RYR1

Linked Data

• ClinVar Variation Id: 159837
• ClinVar RCV Id: RCV000147415 ; RCV000527572 ; RCV002514841
• dbSNP Id: rs587784373
• gnomAD v2: 19-39071098-G-A
• gnomAD v4: 19-38580458-G-A
• COSMIC: COSM5579492
• MyVariant Identifiers: chr19:g.39071098G>A (hg19) ; chr19:g.38580458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580458G>A , CM000681.2:g.38580458G>A	GRCh38
NC_000019.9:g.39071098G>A , CM000681.1:g.39071098G>A	GRCh37
NC_000019.8:g.43762938G>A	NCBI36
NG_008866.1:g.151759G>A , LRG_766:g.151759G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1536G>A
ENST00000688602.1:c.2933G>A
ENST00000689936.1:c.2905G>A
ENST00000359596.8:c.14600G>A MANE Select	ENSP00000352608.2:p.Ser4867Asn
ENST00000355481.8:c.14585G>A	ENSP00000347667.3:p.Ser4862Asn
ENST00000359596.7:c.14600G>A	ENSP00000352608.2:p.Ser4867Asn
ENST00000360985.7:c.14582G>A	ENSP00000354254.4:p.Ser4861Asn
NM_000540.2:c.14600G>A , LRG_766t1:c.14600G>A	NP_000531.2:p.Ser4867Asn
NM_001042723.1:c.14585G>A	NP_001036188.1:p.Ser4862Asn
XM_006723317.1:c.14582G>A	XP_006723380.1:p.Ser4861Asn
XM_006723319.1:c.14567G>A	XP_006723382.1:p.Ser4856Asn
XM_011527204.1:c.14597G>A	XP_011525506.1:p.Ser4866Asn
XM_011527205.1:c.14513G>A	XP_011525507.1:p.Ser4838Asn
XM_006723317.2:c.14582G>A	XP_006723380.1:p.Ser4861Asn
XM_006723319.2:c.14567G>A	XP_006723382.1:p.Ser4856Asn
XM_011527205.2:c.14513G>A	XP_011525507.1:p.Ser4838Asn
NM_000540.3:c.14600G>A MANE Select	NP_000531.2:p.Ser4867Asn
NM_001042723.2:c.14585G>A	NP_001036188.1:p.Ser4862Asn