Canonical Allele Identifier: CA2584900598

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502634-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502636_38502637dup , CM000681.2:g.38502636_38502637dup	GRCh38
NC_000019.9:g.38993276_38993277dup , CM000681.1:g.38993276_38993277dup	GRCh37
NC_000019.8:g.43685116_43685117dup	NCBI36
NG_008866.1:g.73937_73938dup , LRG_766:g.73937_73938dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7744_7745dup	ENSP00000471601.2:p.Met2582IlefsTer?
ENST00000359596.8:c.7744_7745dup MANE Select	ENSP00000352608.2:p.Met2582IlefsTer?
ENST00000355481.8:c.7744_7745dup	ENSP00000347667.3:p.Met2582IlefsTer?
ENST00000359596.7:c.7744_7745dup	ENSP00000352608.2:p.Met2582IlefsTer?
ENST00000360985.7:c.7741_7742dup	ENSP00000354254.4:p.Met2581IlefsTer?
ENST00000594335.5:c.1196_1197dup
NM_000540.2:c.7744_7745dup , LRG_766t1:c.7744_7745dup	NP_000531.2:p.Met2582IlefsTer?
NM_001042723.1:c.7744_7745dup	NP_001036188.1:p.Met2582IlefsTer?
XM_006723317.1:c.7744_7745dup	XP_006723380.1:p.Met2582IlefsTer?
XM_006723319.1:c.7744_7745dup	XP_006723382.1:p.Met2582IlefsTer?
XM_011527204.1:c.7741_7742dup	XP_011525506.1:p.Met2581IlefsTer?
XM_011527205.1:c.7744_7745dup	XP_011525507.1:p.Met2582IlefsTer?
XM_006723317.2:c.7744_7745dup	XP_006723380.1:p.Met2582IlefsTer?
XM_006723319.2:c.7744_7745dup	XP_006723382.1:p.Met2582IlefsTer?
XM_011527205.2:c.7744_7745dup	XP_011525507.1:p.Met2582IlefsTer?
XR_001753735.1:n.7827_7828dup
NM_000540.3:c.7744_7745dup MANE Select	NP_000531.2:p.Met2582IlefsTer?
NM_001042723.2:c.7744_7745dup	NP_001036188.1:p.Met2582IlefsTer?