Canonical Allele Identifier: CA995715387

Gene: RYR1

Linked Data

• dbSNP Id: rs1969994799
• gnomAD v3: 19-38499436-GGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGT-G
• gnomAD v4: 19-38499436-GGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499437_38499477del , CM000681.2:g.38499437_38499477del	GRCh38
NC_000019.9:g.38990077_38990117del , CM000681.1:g.38990077_38990117del	GRCh37
NC_000019.8:g.43681917_43681957del	NCBI36
NG_008866.1:g.70738_70778del , LRG_766:g.70738_70778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7027+194_7028-158del	ENSP00000471601.2:n.7027+194_7028-158del
ENST00000359596.8:c.7027+194_7028-158del MANE Select	ENSP00000352608.2:n.7027+194_7028-158del
ENST00000355481.8:c.7027+194_7028-158del	ENSP00000347667.3:n.7027+194_7028-158del
ENST00000359596.7:c.7027+194_7028-158del	ENSP00000352608.2:n.7027+194_7028-158del
ENST00000360985.7:c.7024+194_7025-158del	ENSP00000354254.4:n.7024+194_7025-158del
ENST00000594335.5:c.479+194_480-158del
NM_000540.2:c.7027+194_7028-158del , LRG_766t1:c.7027+194_7028-158del	NP_000531.2:n.7027+194_7028-158del
NM_001042723.1:c.7027+194_7028-158del	NP_001036188.1:n.7027+194_7028-158del
XM_006723317.1:c.7027+194_7028-158del	XP_006723380.1:n.7027+194_7028-158del
XM_006723319.1:c.7027+194_7028-158del	XP_006723382.1:n.7027+194_7028-158del
XM_011527204.1:c.7024+194_7025-158del	XP_011525506.1:n.7024+194_7025-158del
XM_011527205.1:c.7027+194_7028-158del	XP_011525507.1:n.7027+194_7028-158del
XM_006723317.2:c.7027+194_7028-158del	XP_006723380.1:n.7027+194_7028-158del
XM_006723319.2:c.7027+194_7028-158del	XP_006723382.1:n.7027+194_7028-158del
XM_011527205.2:c.7027+194_7028-158del	XP_011525507.1:n.7027+194_7028-158del
XR_001753735.1:n.7110+194_7111-158del
NM_000540.3:c.7027+194_7028-158del MANE Select	NP_000531.2:n.7027+194_7028-158del
NM_001042723.2:c.7027+194_7028-158del	NP_001036188.1:n.7027+194_7028-158del