Canonical Allele Identifier: CA995724538

Gene: RYR1

Linked Data

• dbSNP Id: rs1974531709
• gnomAD v3: 19-38587174-GCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT-G
• gnomAD v4: 19-38587174-GCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587175_38587267del , CM000681.2:g.38587175_38587267del	GRCh38
NC_000019.9:g.39077815_39077907del , CM000681.1:g.39077815_39077907del	GRCh37
NC_000019.8:g.43769655_43769747del	NCBI36
NG_008866.1:g.158476_158568del , LRG_766:g.158476_158568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+599_1957+691del
ENST00000688602.1:c.3355-150_3355-58del
ENST00000689936.1:c.3327-150_3327-58del
ENST00000692547.1:n.415-150_415-58del
ENST00000359596.8:c.15022-150_15022-58del MANE Select	ENSP00000352608.2:n.15022-150_15022-58del
ENST00000355481.8:c.15007-150_15007-58del	ENSP00000347667.3:n.15007-150_15007-58del
ENST00000359596.7:c.15022-150_15022-58del	ENSP00000352608.2:n.15022-150_15022-58del
ENST00000360985.7:c.15004-150_15004-58del	ENSP00000354254.4:n.15004-150_15004-58del
NM_000540.2:c.15022-150_15022-58del , LRG_766t1:c.15022-150_15022-58del	NP_000531.2:n.15022-150_15022-58del
NM_001042723.1:c.15007-150_15007-58del	NP_001036188.1:n.15007-150_15007-58del
XM_006723317.1:c.15004-150_15004-58del	XP_006723380.1:n.15004-150_15004-58del
XM_006723319.1:c.14989-150_14989-58del	XP_006723382.1:n.14989-150_14989-58del
XM_011527204.1:c.15019-150_15019-58del	XP_011525506.1:n.15019-150_15019-58del
XM_011527205.1:c.14935-150_14935-58del	XP_011525507.1:n.14935-150_14935-58del
XM_006723317.2:c.15004-150_15004-58del	XP_006723380.1:n.15004-150_15004-58del
XM_006723319.2:c.14989-150_14989-58del	XP_006723382.1:n.14989-150_14989-58del
XM_011527205.2:c.14935-150_14935-58del	XP_011525507.1:n.14935-150_14935-58del
NM_000540.3:c.15022-150_15022-58del MANE Select	NP_000531.2:n.15022-150_15022-58del
NM_001042723.2:c.15007-150_15007-58del	NP_001036188.1:n.15007-150_15007-58del