Canonical Allele Identifier: CA632872894

Gene: RYR1

Linked Data

• dbSNP Id: rs550360145
• gnomAD v2: 19-39051680-TAA-T
• gnomAD v3: 19-38561040-TAA-T
• gnomAD v4: 19-38561040-TAA-T
• MyVariant Identifiers: chr19:g.39051683_39051684del (hg19) ; chr19:g.39051681_39051682del (hg19) ; chr19:g.38561043_38561044del (hg38) ; chr19:g.38561041_38561042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561056_38561057del , CM000681.2:g.38561056_38561057del	GRCh38
NC_000019.9:g.39051696_39051697del , CM000681.1:g.39051696_39051697del	GRCh37
NC_000019.8:g.43743536_43743537del	NCBI36
NG_008866.1:g.132357_132358del , LRG_766:g.132357_132358del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.693-57_693-56del
ENST00000689936.1:c.675-57_675-56del
ENST00000359596.8:c.12283-57_12283-56del MANE Select	ENSP00000352608.2:n.12283-57_12283-56del
ENST00000355481.8:c.12268-57_12268-56del	ENSP00000347667.3:n.12268-57_12268-56del
ENST00000359596.7:c.12283-57_12283-56del	ENSP00000352608.2:n.12283-57_12283-56del
ENST00000360985.7:c.12265-57_12265-56del	ENSP00000354254.4:n.12265-57_12265-56del
ENST00000594335.5:c.5652-57_5652-56del
NM_000540.2:c.12283-57_12283-56del , LRG_766t1:c.12283-57_12283-56del	NP_000531.2:n.12283-57_12283-56del
NM_001042723.1:c.12268-57_12268-56del	NP_001036188.1:n.12268-57_12268-56del
XM_006723317.1:c.12265-57_12265-56del	XP_006723380.1:n.12265-57_12265-56del
XM_006723319.1:c.12250-57_12250-56del	XP_006723382.1:n.12250-57_12250-56del
XM_011527204.1:c.12280-57_12280-56del	XP_011525506.1:n.12280-57_12280-56del
XM_011527205.1:c.12283-57_12283-56del	XP_011525507.1:n.12283-57_12283-56del
XM_006723317.2:c.12265-57_12265-56del	XP_006723380.1:n.12265-57_12265-56del
XM_006723319.2:c.12250-57_12250-56del	XP_006723382.1:n.12250-57_12250-56del
XM_011527205.2:c.12283-57_12283-56del	XP_011525507.1:n.12283-57_12283-56del
NM_000540.3:c.12283-57_12283-56del MANE Select	NP_000531.2:n.12283-57_12283-56del
NM_001042723.2:c.12268-57_12268-56del	NP_001036188.1:n.12268-57_12268-56del