Canonical Allele Identifier: CA633067005

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2885762
• ClinVar RCV Id: RCV003758051
• dbSNP Id: rs1245052030
• gnomAD v2: 19-39075754-T-TG
• gnomAD v3: 19-38585114-T-TG
• gnomAD v4: 19-38585114-T-TG
• MyVariant Identifiers: chr19:g.39075754_39075755insG (hg19) ; chr19:g.38585114_38585115insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585117dup , CM000681.2:g.38585117dup	GRCh38
NC_000019.9:g.39075757dup , CM000681.1:g.39075757dup	GRCh37
NC_000019.8:g.43767597dup	NCBI36
NG_008866.1:g.156418dup , LRG_766:g.156418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1739+18dup
ENST00000688602.1:c.3136+18dup
ENST00000689936.1:c.3108+18dup
ENST00000692547.1:n.196+18dup
ENST00000359596.8:c.14803+18dup MANE Select	ENSP00000352608.2:n.14803+18dup
ENST00000355481.8:c.14788+18dup	ENSP00000347667.3:n.14788+18dup
ENST00000359596.7:c.14803+18dup	ENSP00000352608.2:n.14803+18dup
ENST00000360985.7:c.14785+18dup	ENSP00000354254.4:n.14785+18dup
NM_000540.2:c.14803+18dup , LRG_766t1:c.14803+18dup	NP_000531.2:n.14803+18dup
NM_001042723.1:c.14788+18dup	NP_001036188.1:n.14788+18dup
XM_006723317.1:c.14785+18dup	XP_006723380.1:n.14785+18dup
XM_006723319.1:c.14770+18dup	XP_006723382.1:n.14770+18dup
XM_011527204.1:c.14800+18dup	XP_011525506.1:n.14800+18dup
XM_011527205.1:c.14716+18dup	XP_011525507.1:n.14716+18dup
XM_006723317.2:c.14785+18dup	XP_006723380.1:n.14785+18dup
XM_006723319.2:c.14770+18dup	XP_006723382.1:n.14770+18dup
XM_011527205.2:c.14716+18dup	XP_011525507.1:n.14716+18dup
NM_000540.3:c.14803+18dup MANE Select	NP_000531.2:n.14803+18dup
NM_001042723.2:c.14788+18dup	NP_001036188.1:n.14788+18dup