Canonical Allele Identifier: CA995716909

Gene: RYR1

Linked Data

• dbSNP Id: rs1970160445
• gnomAD v3: 19-38502333-CTGTGGGCATAGGGG-C
• gnomAD v4: 19-38502333-CTGTGGGCATAGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502347_38502360del , CM000681.2:g.38502347_38502360del	GRCh38
NC_000019.9:g.38992987_38993000del , CM000681.1:g.38992987_38993000del	GRCh37
NC_000019.8:g.43684827_43684840del	NCBI36
NG_008866.1:g.73648_73661del , LRG_766:g.73648_73661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7615-160_7615-147del	ENSP00000471601.2:n.7615-160_7615-147del
ENST00000359596.8:c.7615-160_7615-147del MANE Select	ENSP00000352608.2:n.7615-160_7615-147del
ENST00000355481.8:c.7615-160_7615-147del	ENSP00000347667.3:n.7615-160_7615-147del
ENST00000359596.7:c.7615-160_7615-147del	ENSP00000352608.2:n.7615-160_7615-147del
ENST00000360985.7:c.7612-160_7612-147del	ENSP00000354254.4:n.7612-160_7612-147del
ENST00000594335.5:c.1067-160_1067-147del
NM_000540.2:c.7615-160_7615-147del , LRG_766t1:c.7615-160_7615-147del	NP_000531.2:n.7615-160_7615-147del
NM_001042723.1:c.7615-160_7615-147del	NP_001036188.1:n.7615-160_7615-147del
XM_006723317.1:c.7615-160_7615-147del	XP_006723380.1:n.7615-160_7615-147del
XM_006723319.1:c.7615-160_7615-147del	XP_006723382.1:n.7615-160_7615-147del
XM_011527204.1:c.7612-160_7612-147del	XP_011525506.1:n.7612-160_7612-147del
XM_011527205.1:c.7615-160_7615-147del	XP_011525507.1:n.7615-160_7615-147del
XM_006723317.2:c.7615-160_7615-147del	XP_006723380.1:n.7615-160_7615-147del
XM_006723319.2:c.7615-160_7615-147del	XP_006723382.1:n.7615-160_7615-147del
XM_011527205.2:c.7615-160_7615-147del	XP_011525507.1:n.7615-160_7615-147del
XR_001753735.1:n.7698-160_7698-147del
NM_000540.3:c.7615-160_7615-147del MANE Select	NP_000531.2:n.7615-160_7615-147del
NM_001042723.2:c.7615-160_7615-147del	NP_001036188.1:n.7615-160_7615-147del