Canonical Allele Identifier: CA10652411

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328986
• ClinVar RCV Id: RCV000287894 ; RCV000346586 ; RCV000382215 ; RCV000408310
• dbSNP Id: rs886054374
• gnomAD v2: 19-38924386-G-GC
• gnomAD v3: 19-38433746-G-GC
• gnomAD v4: 19-38433746-G-GC
• MyVariant Identifiers: chr19:g.38924389dupC (hg19) ; chr19:g.38924386_38924387insC (hg19) ; chr19:g.38433749dupC (hg38) ; chr19:g.38433746_38433747insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38433749dup , CM000681.2:g.38433749dup	GRCh38
NC_000019.9:g.38924389dup , CM000681.1:g.38924389dup	GRCh37
NC_000019.8:g.43616229dup	NCBI36
NG_008866.1:g.5050dup , LRG_766:g.5050dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.-81dup MANE Select	ENSP00000352608.2:n.-81dup
ENST00000355481.8:c.-81dup	ENSP00000347667.3:n.-81dup
ENST00000360985.7:c.-81dup	ENSP00000354254.4:n.-81dup
NM_000540.2:c.-81dup , LRG_766t1:c.-81dup	NP_000531.2:n.-81dup
NM_001042723.1:c.-81dup	NP_001036188.1:n.-81dup
XR_001753735.1:n.3dup
NM_000540.3:c.-81dup MANE Select	NP_000531.2:n.-81dup
NM_001042723.2:c.-81dup	NP_001036188.1:n.-81dup