Canonical Allele Identifier: CA2335088477

Gene: RYR1

Linked Data

• dbSNP Id: rs1284321655
• gnomAD v4: 19-38572285-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572285A>T , CM000681.2:g.38572285A>T	GRCh38
NC_000019.9:g.39062925A>T , CM000681.1:g.39062925A>T	GRCh37
NC_000019.8:g.43754765A>T	NCBI36
NG_008866.1:g.143586A>T , LRG_766:g.143586A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+15A>T
ENST00000688602.1:c.2331+15A>T
ENST00000689936.1:c.2303+15A>T
ENST00000359596.8:c.13998+15A>T MANE Select	ENSP00000352608.2:n.13998+15A>T
ENST00000355481.8:c.13983+15A>T	ENSP00000347667.3:n.13983+15A>T
ENST00000359596.7:c.13998+15A>T	ENSP00000352608.2:n.13998+15A>T
ENST00000360985.7:c.13980+15A>T	ENSP00000354254.4:n.13980+15A>T
NM_000540.2:c.13998+15A>T , LRG_766t1:c.13998+15A>T	NP_000531.2:n.13998+15A>T
NM_001042723.1:c.13983+15A>T	NP_001036188.1:n.13983+15A>T
XM_006723317.1:c.13980+15A>T	XP_006723380.1:n.13980+15A>T
XM_006723319.1:c.13965+15A>T	XP_006723382.1:n.13965+15A>T
XM_011527204.1:c.13995+15A>T	XP_011525506.1:n.13995+15A>T
XM_011527205.1:c.13911+15A>T	XP_011525507.1:n.13911+15A>T
XM_006723317.2:c.13980+15A>T	XP_006723380.1:n.13980+15A>T
XM_006723319.2:c.13965+15A>T	XP_006723382.1:n.13965+15A>T
XM_011527205.2:c.13911+15A>T	XP_011525507.1:n.13911+15A>T
NM_000540.3:c.13998+15A>T MANE Select	NP_000531.2:n.13998+15A>T
NM_001042723.2:c.13983+15A>T	NP_001036188.1:n.13983+15A>T