Canonical Allele Identifier: CA995729708

Gene: RYR1

Linked Data

• gnomAD v3: 19-38561040-T-TAAAA
• gnomAD v4: 19-38561040-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561054_38561057dup , CM000681.2:g.38561054_38561057dup	GRCh38
NC_000019.9:g.39051694_39051697dup , CM000681.1:g.39051694_39051697dup	GRCh37
NC_000019.8:g.43743534_43743537dup	NCBI36
NG_008866.1:g.132355_132358dup , LRG_766:g.132355_132358dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.693-59_693-56dup
ENST00000689936.1:c.675-59_675-56dup
ENST00000359596.8:c.12283-59_12283-56dup MANE Select	ENSP00000352608.2:n.12283-59_12283-56dup
ENST00000355481.8:c.12268-59_12268-56dup	ENSP00000347667.3:n.12268-59_12268-56dup
ENST00000359596.7:c.12283-59_12283-56dup	ENSP00000352608.2:n.12283-59_12283-56dup
ENST00000360985.7:c.12265-59_12265-56dup	ENSP00000354254.4:n.12265-59_12265-56dup
ENST00000594335.5:c.5652-59_5652-56dup
NM_000540.2:c.12283-59_12283-56dup , LRG_766t1:c.12283-59_12283-56dup	NP_000531.2:n.12283-59_12283-56dup
NM_001042723.1:c.12268-59_12268-56dup	NP_001036188.1:n.12268-59_12268-56dup
XM_006723317.1:c.12265-59_12265-56dup	XP_006723380.1:n.12265-59_12265-56dup
XM_006723319.1:c.12250-59_12250-56dup	XP_006723382.1:n.12250-59_12250-56dup
XM_011527204.1:c.12280-59_12280-56dup	XP_011525506.1:n.12280-59_12280-56dup
XM_011527205.1:c.12283-59_12283-56dup	XP_011525507.1:n.12283-59_12283-56dup
XM_006723317.2:c.12265-59_12265-56dup	XP_006723380.1:n.12265-59_12265-56dup
XM_006723319.2:c.12250-59_12250-56dup	XP_006723382.1:n.12250-59_12250-56dup
XM_011527205.2:c.12283-59_12283-56dup	XP_011525507.1:n.12283-59_12283-56dup
NM_000540.3:c.12283-59_12283-56dup MANE Select	NP_000531.2:n.12283-59_12283-56dup
NM_001042723.2:c.12268-59_12268-56dup	NP_001036188.1:n.12268-59_12268-56dup