Canonical Allele Identifier: CA308109332

Gene: RYR1

Linked Data

• ClinVar Variation Id: 521376
• ClinVar RCV Id: RCV002289910 ; RCV002506516
• dbSNP Id: rs995399684
• gnomAD v2: 19-39055860-C-T
• gnomAD v3: 19-38565220-C-T
• gnomAD v4: 19-38565220-C-T
• MyVariant Identifiers: chr19:g.39055860C>T (hg19) ; chr19:g.38565220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565220C>T , CM000681.2:g.38565220C>T	GRCh38
NC_000019.9:g.39055860C>T , CM000681.1:g.39055860C>T	GRCh37
NC_000019.8:g.43747700C>T	NCBI36
NG_008866.1:g.136521C>T , LRG_766:g.136521C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1296C>T
ENST00000689936.1:c.1278C>T
ENST00000359596.8:c.12886C>T MANE Select	ENSP00000352608.2:p.Arg4296Trp
ENST00000355481.8:c.12871C>T	ENSP00000347667.3:p.Arg4291Trp
ENST00000359596.7:c.12886C>T	ENSP00000352608.2:p.Arg4296Trp
ENST00000360985.7:c.12868C>T	ENSP00000354254.4:p.Arg4290Trp
ENST00000594335.5:c.6255C>T
NM_000540.2:c.12886C>T , LRG_766t1:c.12886C>T	NP_000531.2:p.Arg4296Trp
NM_001042723.1:c.12871C>T	NP_001036188.1:p.Arg4291Trp
XM_006723317.1:c.12868C>T	XP_006723380.1:p.Arg4290Trp
XM_006723319.1:c.12853C>T	XP_006723382.1:p.Arg4285Trp
XM_011527204.1:c.12883C>T	XP_011525506.1:p.Arg4295Trp
XM_011527205.1:c.12886C>T	XP_011525507.1:p.Arg4296Trp
XM_006723317.2:c.12868C>T	XP_006723380.1:p.Arg4290Trp
XM_006723319.2:c.12853C>T	XP_006723382.1:p.Arg4285Trp
XM_011527205.2:c.12886C>T	XP_011525507.1:p.Arg4296Trp
NM_000540.3:c.12886C>T MANE Select	NP_000531.2:p.Arg4296Trp
NM_001042723.2:c.12871C>T	NP_001036188.1:p.Arg4291Trp