Canonical Allele Identifier: CA632878266

Gene: RYR1

Linked Data

• dbSNP Id: rs1568613595
• gnomAD v2: 19-39076858-AGG-A
• gnomAD v4: 19-38586218-AGG-A
• MyVariant Identifiers: chr19:g.39076859_39076860del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586220_38586221del , CM000681.2:g.38586220_38586221del	GRCh38
NC_000019.9:g.39076860_39076861del , CM000681.1:g.39076860_39076861del	GRCh37
NC_000019.8:g.43768700_43768701del	NCBI36
NG_008866.1:g.157521_157522del , LRG_766:g.157521_157522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+29_1905+30del
ENST00000688602.1:c.3302+29_3302+30del
ENST00000689936.1:c.3274+29_3274+30del
ENST00000692547.1:n.362+29_362+30del
ENST00000359596.8:c.14969+29_14969+30del MANE Select	ENSP00000352608.2:n.14969+29_14969+30del
ENST00000355481.8:c.14954+29_14954+30del	ENSP00000347667.3:n.14954+29_14954+30del
ENST00000359596.7:c.14969+29_14969+30del	ENSP00000352608.2:n.14969+29_14969+30del
ENST00000360985.7:c.14951+29_14951+30del	ENSP00000354254.4:n.14951+29_14951+30del
NM_000540.2:c.14969+29_14969+30del , LRG_766t1:c.14969+29_14969+30del	NP_000531.2:n.14969+29_14969+30del
NM_001042723.1:c.14954+29_14954+30del	NP_001036188.1:n.14954+29_14954+30del
XM_006723317.1:c.14951+29_14951+30del	XP_006723380.1:n.14951+29_14951+30del
XM_006723319.1:c.14936+29_14936+30del	XP_006723382.1:n.14936+29_14936+30del
XM_011527204.1:c.14966+29_14966+30del	XP_011525506.1:n.14966+29_14966+30del
XM_011527205.1:c.14882+29_14882+30del	XP_011525507.1:n.14882+29_14882+30del
XM_006723317.2:c.14951+29_14951+30del	XP_006723380.1:n.14951+29_14951+30del
XM_006723319.2:c.14936+29_14936+30del	XP_006723382.1:n.14936+29_14936+30del
XM_011527205.2:c.14882+29_14882+30del	XP_011525507.1:n.14882+29_14882+30del
NM_000540.3:c.14969+29_14969+30del MANE Select	NP_000531.2:n.14969+29_14969+30del
NM_001042723.2:c.14954+29_14954+30del	NP_001036188.1:n.14954+29_14954+30del