Canonical Allele Identifier: CA2335058940

Gene: RYR1

Linked Data

• dbSNP Id: rs1970695674

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510856_38510862dup , CM000681.2:g.38510856_38510862dup	GRCh38
NC_000019.9:g.39001496_39001502dup , CM000681.1:g.39001496_39001502dup	GRCh37
NC_000019.8:g.43693336_43693342dup	NCBI36
NG_008866.1:g.82157_82163dup , LRG_766:g.82157_82163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9122+75_9122+81dup	ENSP00000471601.2:n.9122+75_9122+81dup
ENST00000359596.8:c.9122+75_9122+81dup MANE Select	ENSP00000352608.2:n.9122+75_9122+81dup
ENST00000355481.8:c.9122+75_9122+81dup	ENSP00000347667.3:n.9122+75_9122+81dup
ENST00000359596.7:c.9122+75_9122+81dup	ENSP00000352608.2:n.9122+75_9122+81dup
ENST00000360985.7:c.9119+75_9119+81dup	ENSP00000354254.4:n.9119+75_9119+81dup
ENST00000594335.5:c.2574+75_2574+81dup
NM_000540.2:c.9122+75_9122+81dup , LRG_766t1:c.9122+75_9122+81dup	NP_000531.2:n.9122+75_9122+81dup
NM_001042723.1:c.9122+75_9122+81dup	NP_001036188.1:n.9122+75_9122+81dup
XM_006723317.1:c.9122+75_9122+81dup	XP_006723380.1:n.9122+75_9122+81dup
XM_006723319.1:c.9122+75_9122+81dup	XP_006723382.1:n.9122+75_9122+81dup
XM_011527204.1:c.9119+75_9119+81dup	XP_011525506.1:n.9119+75_9119+81dup
XM_011527205.1:c.9122+75_9122+81dup	XP_011525507.1:n.9122+75_9122+81dup
XM_006723317.2:c.9122+75_9122+81dup	XP_006723380.1:n.9122+75_9122+81dup
XM_006723319.2:c.9122+75_9122+81dup	XP_006723382.1:n.9122+75_9122+81dup
XM_011527205.2:c.9122+75_9122+81dup	XP_011525507.1:n.9122+75_9122+81dup
XR_001753735.1:n.9205+75_9205+81dup
NM_000540.3:c.9122+75_9122+81dup MANE Select	NP_000531.2:n.9122+75_9122+81dup
NM_001042723.2:c.9122+75_9122+81dup	NP_001036188.1:n.9122+75_9122+81dup