Canonical Allele Identifier: CA633066293

Gene: RYR1

Linked Data

• dbSNP Id: rs1249205810
• gnomAD v2: 19-38993436-G-GGCAGGGGCAGGGGGAGGA
• gnomAD v3: 19-38502796-G-GGCAGGGGCAGGGGGAGGA
• gnomAD v4: 19-38502796-G-GGCAGGGGCAGGGGGAGGA
• MyVariant Identifiers: chr19:g.38993454_38993455insGCAGGGGCAGGGGGAGGA (hg19) ; chr19:g.38502814_38502815insGCAGGGGCAGGGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502810_38502827dup , CM000681.2:g.38502810_38502827dup	GRCh38
NC_000019.9:g.38993450_38993467dup , CM000681.1:g.38993450_38993467dup	GRCh37
NC_000019.8:g.43685290_43685307dup	NCBI36
NG_008866.1:g.74111_74128dup , LRG_766:g.74111_74128dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-70_7836-53dup	ENSP00000471601.2:n.7836-70_7836-53dup
ENST00000359596.8:c.7836-70_7836-53dup MANE Select	ENSP00000352608.2:n.7836-70_7836-53dup
ENST00000355481.8:c.7836-70_7836-53dup	ENSP00000347667.3:n.7836-70_7836-53dup
ENST00000359596.7:c.7836-70_7836-53dup	ENSP00000352608.2:n.7836-70_7836-53dup
ENST00000360985.7:c.7833-70_7833-53dup	ENSP00000354254.4:n.7833-70_7833-53dup
ENST00000594335.5:c.1288-70_1288-53dup
NM_000540.2:c.7836-70_7836-53dup , LRG_766t1:c.7836-70_7836-53dup	NP_000531.2:n.7836-70_7836-53dup
NM_001042723.1:c.7836-70_7836-53dup	NP_001036188.1:n.7836-70_7836-53dup
XM_006723317.1:c.7836-70_7836-53dup	XP_006723380.1:n.7836-70_7836-53dup
XM_006723319.1:c.7836-70_7836-53dup	XP_006723382.1:n.7836-70_7836-53dup
XM_011527204.1:c.7833-70_7833-53dup	XP_011525506.1:n.7833-70_7833-53dup
XM_011527205.1:c.7836-70_7836-53dup	XP_011525507.1:n.7836-70_7836-53dup
XM_006723317.2:c.7836-70_7836-53dup	XP_006723380.1:n.7836-70_7836-53dup
XM_006723319.2:c.7836-70_7836-53dup	XP_006723382.1:n.7836-70_7836-53dup
XM_011527205.2:c.7836-70_7836-53dup	XP_011525507.1:n.7836-70_7836-53dup
XR_001753735.1:n.7919-70_7919-53dup
NM_000540.3:c.7836-70_7836-53dup MANE Select	NP_000531.2:n.7836-70_7836-53dup
NM_001042723.2:c.7836-70_7836-53dup	NP_001036188.1:n.7836-70_7836-53dup