Canonical Allele Identifier: CA405690259

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590469
• ClinVar RCV Id: RCV000721395
• dbSNP Id: rs193922890
• MyVariant Identifiers: chr19:g.39075617C>A (hg19) ; chr19:g.38584977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584977C>A , CM000681.2:g.38584977C>A	GRCh38
NC_000019.9:g.39075617C>A , CM000681.1:g.39075617C>A	GRCh37
NC_000019.8:g.43767457C>A	NCBI36
NG_008866.1:g.156278C>A , LRG_766:g.156278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1617C>A
ENST00000688602.1:c.3014C>A
ENST00000689936.1:c.2986C>A
ENST00000692547.1:n.74C>A
ENST00000359596.8:c.14681C>A MANE Select	ENSP00000352608.2:p.Ala4894Asp
ENST00000355481.8:c.14666C>A	ENSP00000347667.3:p.Ala4889Asp
ENST00000359596.7:c.14681C>A	ENSP00000352608.2:p.Ala4894Asp
ENST00000360985.7:c.14663C>A	ENSP00000354254.4:p.Ala4888Asp
NM_000540.2:c.14681C>A , LRG_766t1:c.14681C>A	NP_000531.2:p.Ala4894Asp
NM_001042723.1:c.14666C>A	NP_001036188.1:p.Ala4889Asp
XM_006723317.1:c.14663C>A	XP_006723380.1:p.Ala4888Asp
XM_006723319.1:c.14648C>A	XP_006723382.1:p.Ala4883Asp
XM_011527204.1:c.14678C>A	XP_011525506.1:p.Ala4893Asp
XM_011527205.1:c.14594C>A	XP_011525507.1:p.Ala4865Asp
XM_006723317.2:c.14663C>A	XP_006723380.1:p.Ala4888Asp
XM_006723319.2:c.14648C>A	XP_006723382.1:p.Ala4883Asp
XM_011527205.2:c.14594C>A	XP_011525507.1:p.Ala4865Asp
NM_000540.3:c.14681C>A MANE Select	NP_000531.2:p.Ala4894Asp
NM_001042723.2:c.14666C>A	NP_001036188.1:p.Ala4889Asp