Canonical Allele Identifier: CA632872898

Gene: RYR1

Linked Data

• dbSNP Id: rs1383747796
• gnomAD v2: 19-39051690-AAAAAAAAGAG-A
• gnomAD v3: 19-38561050-AAAAAAAAGAG-A
• gnomAD v4: 19-38561050-AAAAAAAAGAG-A
• MyVariant Identifiers: chr19:g.39051691_39051700del (hg19) ; chr19:g.38561051_38561060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561052_38561061del , CM000681.2:g.38561052_38561061del	GRCh38
NC_000019.9:g.39051692_39051701del , CM000681.1:g.39051692_39051701del	GRCh37
NC_000019.8:g.43743532_43743541del	NCBI36
NG_008866.1:g.132353_132362del , LRG_766:g.132353_132362del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.693-61_693-52del
ENST00000689936.1:c.675-61_675-52del
ENST00000359596.8:c.12283-61_12283-52del MANE Select	ENSP00000352608.2:n.12283-61_12283-52del
ENST00000355481.8:c.12268-61_12268-52del	ENSP00000347667.3:n.12268-61_12268-52del
ENST00000359596.7:c.12283-61_12283-52del	ENSP00000352608.2:n.12283-61_12283-52del
ENST00000360985.7:c.12265-61_12265-52del	ENSP00000354254.4:n.12265-61_12265-52del
ENST00000594335.5:c.5652-61_5652-52del
NM_000540.2:c.12283-61_12283-52del , LRG_766t1:c.12283-61_12283-52del	NP_000531.2:n.12283-61_12283-52del
NM_001042723.1:c.12268-61_12268-52del	NP_001036188.1:n.12268-61_12268-52del
XM_006723317.1:c.12265-61_12265-52del	XP_006723380.1:n.12265-61_12265-52del
XM_006723319.1:c.12250-61_12250-52del	XP_006723382.1:n.12250-61_12250-52del
XM_011527204.1:c.12280-61_12280-52del	XP_011525506.1:n.12280-61_12280-52del
XM_011527205.1:c.12283-61_12283-52del	XP_011525507.1:n.12283-61_12283-52del
XM_006723317.2:c.12265-61_12265-52del	XP_006723380.1:n.12265-61_12265-52del
XM_006723319.2:c.12250-61_12250-52del	XP_006723382.1:n.12250-61_12250-52del
XM_011527205.2:c.12283-61_12283-52del	XP_011525507.1:n.12283-61_12283-52del
NM_000540.3:c.12283-61_12283-52del MANE Select	NP_000531.2:n.12283-61_12283-52del
NM_001042723.2:c.12268-61_12268-52del	NP_001036188.1:n.12268-61_12268-52del