Canonical Allele Identifier: CA2584911308

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3069451
• ClinVar RCV Id: RCV004007995
• gnomAD v4: 19-38580487-TGTGATGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580488_38580495del , CM000681.2:g.38580488_38580495del	GRCh38
NC_000019.9:g.39071128_39071135del , CM000681.1:g.39071128_39071135del	GRCh37
NC_000019.8:g.43762968_43762975del	NCBI36
NG_008866.1:g.151789_151796del , LRG_766:g.151789_151796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1566_1573del
ENST00000688602.1:c.2963_2970del
ENST00000689936.1:c.2935_2942del
ENST00000359596.8:c.14630_14637del MANE Select	ENSP00000352608.2:p.Cys4877TyrfsTer29
ENST00000355481.8:c.14615_14622del	ENSP00000347667.3:p.Cys4872TyrfsTer29
ENST00000359596.7:c.14630_14637del	ENSP00000352608.2:p.Cys4877TyrfsTer29
ENST00000360985.7:c.14612_14619del	ENSP00000354254.4:p.Cys4871TyrfsTer29
NM_000540.2:c.14630_14637del , LRG_766t1:c.14630_14637del	NP_000531.2:p.Cys4877TyrfsTer29
NM_001042723.1:c.14615_14622del	NP_001036188.1:p.Cys4872TyrfsTer29
XM_006723317.1:c.14612_14619del	XP_006723380.1:p.Cys4871TyrfsTer29
XM_006723319.1:c.14597_14604del	XP_006723382.1:p.Cys4866TyrfsTer29
XM_011527204.1:c.14627_14634del	XP_011525506.1:p.Cys4876TyrfsTer29
XM_011527205.1:c.14543_14550del	XP_011525507.1:p.Cys4848TyrfsTer29
XM_006723317.2:c.14612_14619del	XP_006723380.1:p.Cys4871TyrfsTer29
XM_006723319.2:c.14597_14604del	XP_006723382.1:p.Cys4866TyrfsTer29
XM_011527205.2:c.14543_14550del	XP_011525507.1:p.Cys4848TyrfsTer29
NM_000540.3:c.14630_14637del MANE Select	NP_000531.2:p.Cys4877TyrfsTer29
NM_001042723.2:c.14615_14622del	NP_001036188.1:p.Cys4872TyrfsTer29