Canonical Allele Identifier: CA308092507

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1224203
• ClinVar RCV Id: RCV001594718
• dbSNP Id: rs142517959
• gnomAD v2: 19-39034584-GC-G
• gnomAD v3: 19-38543944-GC-G
• gnomAD v4: 19-38543944-GC-G
• MyVariant Identifiers: chr19:g.39034585del (hg19) ; chr19:g.38543945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543948del , CM000681.2:g.38543948del	GRCh38
NC_000019.9:g.39034588del , CM000681.1:g.39034588del	GRCh37
NC_000019.8:g.43726428del	NCBI36
NG_008866.1:g.115249del , LRG_766:g.115249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.422+73del
ENST00000689936.1:c.404+73del
ENST00000359596.8:c.12012+73del MANE Select	ENSP00000352608.2:n.12012+73del
ENST00000355481.8:c.11997+73del	ENSP00000347667.3:n.11997+73del
ENST00000359596.7:c.12012+73del	ENSP00000352608.2:n.12012+73del
ENST00000360985.7:c.11994+73del	ENSP00000354254.4:n.11994+73del
ENST00000593322.1:c.621+73del
ENST00000594335.5:c.5381+73del
NM_000540.2:c.12012+73del , LRG_766t1:c.12012+73del	NP_000531.2:n.12012+73del
NM_001042723.1:c.11997+73del	NP_001036188.1:n.11997+73del
XM_006723317.1:c.11994+73del	XP_006723380.1:n.11994+73del
XM_006723319.1:c.11979+73del	XP_006723382.1:n.11979+73del
XM_011527204.1:c.12009+73del	XP_011525506.1:n.12009+73del
XM_011527205.1:c.12012+73del	XP_011525507.1:n.12012+73del
XM_006723317.2:c.11994+73del	XP_006723380.1:n.11994+73del
XM_006723319.2:c.11979+73del	XP_006723382.1:n.11979+73del
XM_011527205.2:c.12012+73del	XP_011525507.1:n.12012+73del
NM_000540.3:c.12012+73del MANE Select	NP_000531.2:n.12012+73del
NM_001042723.2:c.11997+73del	NP_001036188.1:n.11997+73del