Canonical Allele Identifier: CA405690809

Gene: RYR1

Linked Data

• ClinVar Variation Id: 940673
• ClinVar RCV Id: RCV001210308
• dbSNP Id: rs1469916243
• COSMIC: COSM996077
• MyVariant Identifiers: chr19:g.39075688G>A (hg19) ; chr19:g.38585048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585048G>A , CM000681.2:g.38585048G>A	GRCh38
NC_000019.9:g.39075688G>A , CM000681.1:g.39075688G>A	GRCh37
NC_000019.8:g.43767528G>A	NCBI36
NG_008866.1:g.156349G>A , LRG_766:g.156349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1688G>A
ENST00000688602.1:c.3085G>A
ENST00000689936.1:c.3057G>A
ENST00000692547.1:n.145G>A
ENST00000359596.8:c.14752G>A MANE Select	ENSP00000352608.2:p.Asp4918Asn
ENST00000355481.8:c.14737G>A	ENSP00000347667.3:p.Asp4913Asn
ENST00000359596.7:c.14752G>A	ENSP00000352608.2:p.Asp4918Asn
ENST00000360985.7:c.14734G>A	ENSP00000354254.4:p.Asp4912Asn
NM_000540.2:c.14752G>A , LRG_766t1:c.14752G>A	NP_000531.2:p.Asp4918Asn
NM_001042723.1:c.14737G>A	NP_001036188.1:p.Asp4913Asn
XM_006723317.1:c.14734G>A	XP_006723380.1:p.Asp4912Asn
XM_006723319.1:c.14719G>A	XP_006723382.1:p.Asp4907Asn
XM_011527204.1:c.14749G>A	XP_011525506.1:p.Asp4917Asn
XM_011527205.1:c.14665G>A	XP_011525507.1:p.Asp4889Asn
XM_006723317.2:c.14734G>A	XP_006723380.1:p.Asp4912Asn
XM_006723319.2:c.14719G>A	XP_006723382.1:p.Asp4907Asn
XM_011527205.2:c.14665G>A	XP_011525507.1:p.Asp4889Asn
NM_000540.3:c.14752G>A MANE Select	NP_000531.2:p.Asp4918Asn
NM_001042723.2:c.14737G>A	NP_001036188.1:p.Asp4913Asn