Canonical Allele Identifier: CA2580097190

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2433073
• ClinVar RCV Id: RCV003131343

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517500dup , CM000681.2:g.38517500dup	GRCh38
NC_000019.9:g.39008140dup , CM000681.1:g.39008140dup	GRCh37
NC_000019.8:g.43699980dup	NCBI36
NG_008866.1:g.88801dup , LRG_766:g.88801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9766dup	ENSP00000471601.2:n.9766dup
ENST00000359596.8:c.9827dup MANE Select	ENSP00000352608.2:p.Met3276IlefsTer?
ENST00000355481.8:c.9827dup	ENSP00000347667.3:p.Met3276IlefsTer?
ENST00000359596.7:c.9827dup	ENSP00000352608.2:p.Met3276IlefsTer?
ENST00000360985.7:c.9824dup	ENSP00000354254.4:p.Met3275IlefsTer?
ENST00000594335.5:c.3229dup
ENST00000599547.5:c.634dup
NM_000540.2:c.9827dup , LRG_766t1:c.9827dup	NP_000531.2:p.Met3276IlefsTer?
NM_001042723.1:c.9827dup	NP_001036188.1:p.Met3276IlefsTer?
XM_006723317.1:c.9827dup	XP_006723380.1:p.Met3276IlefsTer?
XM_006723319.1:c.9827dup	XP_006723382.1:p.Met3276IlefsTer?
XM_011527204.1:c.9824dup	XP_011525506.1:p.Met3275IlefsTer?
XM_011527205.1:c.9827dup	XP_011525507.1:p.Met3276IlefsTer?
XM_006723317.2:c.9827dup	XP_006723380.1:p.Met3276IlefsTer?
XM_006723319.2:c.9827dup	XP_006723382.1:p.Met3276IlefsTer?
XM_011527205.2:c.9827dup	XP_011525507.1:p.Met3276IlefsTer?
NM_000540.3:c.9827dup MANE Select	NP_000531.2:p.Met3276IlefsTer?
NM_001042723.2:c.9827dup	NP_001036188.1:p.Met3276IlefsTer?