Canonical Allele Identifier: CA2584911783

Gene: RYR1

Linked Data

• gnomAD v4: 19-38587270-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587272_38587273dup , CM000681.2:g.38587272_38587273dup	GRCh38
NC_000019.9:g.39077912_39077913dup , CM000681.1:g.39077912_39077913dup	GRCh37
NC_000019.8:g.43769752_43769753dup	NCBI36
NG_008866.1:g.158573_158574dup , LRG_766:g.158573_158574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+696_1957+697dup
ENST00000688602.1:c.3355-53_3355-52dup
ENST00000689936.1:c.3327-53_3327-52dup
ENST00000692547.1:n.415-53_415-52dup
ENST00000359596.8:c.15022-53_15022-52dup MANE Select	ENSP00000352608.2:n.15022-53_15022-52dup
ENST00000355481.8:c.15007-53_15007-52dup	ENSP00000347667.3:n.15007-53_15007-52dup
ENST00000359596.7:c.15022-53_15022-52dup	ENSP00000352608.2:n.15022-53_15022-52dup
ENST00000360985.7:c.15004-53_15004-52dup	ENSP00000354254.4:n.15004-53_15004-52dup
NM_000540.2:c.15022-53_15022-52dup , LRG_766t1:c.15022-53_15022-52dup	NP_000531.2:n.15022-53_15022-52dup
NM_001042723.1:c.15007-53_15007-52dup	NP_001036188.1:n.15007-53_15007-52dup
XM_006723317.1:c.15004-53_15004-52dup	XP_006723380.1:n.15004-53_15004-52dup
XM_006723319.1:c.14989-53_14989-52dup	XP_006723382.1:n.14989-53_14989-52dup
XM_011527204.1:c.15019-53_15019-52dup	XP_011525506.1:n.15019-53_15019-52dup
XM_011527205.1:c.14935-53_14935-52dup	XP_011525507.1:n.14935-53_14935-52dup
XM_006723317.2:c.15004-53_15004-52dup	XP_006723380.1:n.15004-53_15004-52dup
XM_006723319.2:c.14989-53_14989-52dup	XP_006723382.1:n.14989-53_14989-52dup
XM_011527205.2:c.14935-53_14935-52dup	XP_011525507.1:n.14935-53_14935-52dup
NM_000540.3:c.15022-53_15022-52dup MANE Select	NP_000531.2:n.15022-53_15022-52dup
NM_001042723.2:c.15007-53_15007-52dup	NP_001036188.1:n.15007-53_15007-52dup