Canonical Allele Identifier: CA10648616

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328988
• ClinVar RCV Id: RCV000300071 ; RCV000353730 ; RCV000359552 ; RCV000406120
• dbSNP Id: rs886054376
• gnomAD v4: 19-38433757-G-GC
• MyVariant Identifiers: chr19:g.38924400dupC (hg19) ; chr19:g.38433760dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38433760dup , CM000681.2:g.38433760dup	GRCh38
NC_000019.9:g.38924400dup , CM000681.1:g.38924400dup	GRCh37
NC_000019.8:g.43616240dup	NCBI36
NG_008866.1:g.5061dup , LRG_766:g.5061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.-70dup MANE Select	ENSP00000352608.2:n.-70dup
ENST00000355481.8:c.-70dup	ENSP00000347667.3:n.-70dup
ENST00000360985.7:c.-70dup	ENSP00000354254.4:n.-70dup
NM_000540.2:c.-70dup , LRG_766t1:c.-70dup	NP_000531.2:n.-70dup
NM_001042723.1:c.-70dup	NP_001036188.1:n.-70dup
XM_006723317.2:c.-70dup	XP_006723380.1:n.-70dup
XM_006723319.2:c.-70dup	XP_006723382.1:n.-70dup
XM_011527205.2:c.-70dup	XP_011525507.1:n.-70dup
XR_001753735.1:n.14dup
NM_000540.3:c.-70dup MANE Select	NP_000531.2:n.-70dup
NM_001042723.2:c.-70dup	NP_001036188.1:n.-70dup