Canonical Allele Identifier: CA2584902811

Gene: RYR1

Linked Data

• gnomAD v4: 19-38510567-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510571_38510572dup , CM000681.2:g.38510571_38510572dup	GRCh38
NC_000019.9:g.39001211_39001212dup , CM000681.1:g.39001211_39001212dup	GRCh37
NC_000019.8:g.43693051_43693052dup	NCBI36
NG_008866.1:g.81872_81873dup , LRG_766:g.81872_81873dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9000+6_9000+7dup	ENSP00000471601.2:n.9000+6_9000+7dup
ENST00000359596.8:c.9000+6_9000+7dup MANE Select	ENSP00000352608.2:n.9000+6_9000+7dup
ENST00000355481.8:c.9000+6_9000+7dup	ENSP00000347667.3:n.9000+6_9000+7dup
ENST00000359596.7:c.9000+6_9000+7dup	ENSP00000352608.2:n.9000+6_9000+7dup
ENST00000360985.7:c.8997+6_8997+7dup	ENSP00000354254.4:n.8997+6_8997+7dup
ENST00000594335.5:c.2452+6_2452+7dup
NM_000540.2:c.9000+6_9000+7dup , LRG_766t1:c.9000+6_9000+7dup	NP_000531.2:n.9000+6_9000+7dup
NM_001042723.1:c.9000+6_9000+7dup	NP_001036188.1:n.9000+6_9000+7dup
XM_006723317.1:c.9000+6_9000+7dup	XP_006723380.1:n.9000+6_9000+7dup
XM_006723319.1:c.9000+6_9000+7dup	XP_006723382.1:n.9000+6_9000+7dup
XM_011527204.1:c.8997+6_8997+7dup	XP_011525506.1:n.8997+6_8997+7dup
XM_011527205.1:c.9000+6_9000+7dup	XP_011525507.1:n.9000+6_9000+7dup
XM_006723317.2:c.9000+6_9000+7dup	XP_006723380.1:n.9000+6_9000+7dup
XM_006723319.2:c.9000+6_9000+7dup	XP_006723382.1:n.9000+6_9000+7dup
XM_011527205.2:c.9000+6_9000+7dup	XP_011525507.1:n.9000+6_9000+7dup
XR_001753735.1:n.9083+6_9083+7dup
NM_000540.3:c.9000+6_9000+7dup MANE Select	NP_000531.2:n.9000+6_9000+7dup
NM_001042723.2:c.9000+6_9000+7dup	NP_001036188.1:n.9000+6_9000+7dup