Canonical Allele Identifier: CA2814346340

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500811_38500812insAACC , CM000681.2:g.38500811_38500812insAACC	GRCh38
NC_000019.9:g.38991451_38991452insAACC , CM000681.1:g.38991451_38991452insAACC	GRCh37
NC_000019.8:g.43683291_43683292insAACC	NCBI36
NG_008866.1:g.72112_72113insAACC , LRG_766:g.72112_72113insAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7445-10_7445-9insAACC	ENSP00000471601.2:n.7445-10_7445-9insAACC
ENST00000359596.8:c.7445-10_7445-9insAACC MANE Select	ENSP00000352608.2:n.7445-10_7445-9insAACC
ENST00000355481.8:c.7445-10_7445-9insAACC	ENSP00000347667.3:n.7445-10_7445-9insAACC
ENST00000359596.7:c.7445-10_7445-9insAACC	ENSP00000352608.2:n.7445-10_7445-9insAACC
ENST00000360985.7:c.7442-10_7442-9insAACC	ENSP00000354254.4:n.7442-10_7442-9insAACC
ENST00000594335.5:c.897-10_897-9insAACC
NM_000540.2:c.7445-10_7445-9insAACC , LRG_766t1:c.7445-10_7445-9insAACC	NP_000531.2:n.7445-10_7445-9insAACC
NM_001042723.1:c.7445-10_7445-9insAACC	NP_001036188.1:n.7445-10_7445-9insAACC
XM_006723317.1:c.7445-10_7445-9insAACC	XP_006723380.1:n.7445-10_7445-9insAACC
XM_006723319.1:c.7445-10_7445-9insAACC	XP_006723382.1:n.7445-10_7445-9insAACC
XM_011527204.1:c.7442-10_7442-9insAACC	XP_011525506.1:n.7442-10_7442-9insAACC
XM_011527205.1:c.7445-10_7445-9insAACC	XP_011525507.1:n.7445-10_7445-9insAACC
XM_006723317.2:c.7445-10_7445-9insAACC	XP_006723380.1:n.7445-10_7445-9insAACC
XM_006723319.2:c.7445-10_7445-9insAACC	XP_006723382.1:n.7445-10_7445-9insAACC
XM_011527205.2:c.7445-10_7445-9insAACC	XP_011525507.1:n.7445-10_7445-9insAACC
XR_001753735.1:n.7528-10_7528-9insAACC
NM_000540.3:c.7445-10_7445-9insAACC MANE Select	NP_000531.2:n.7445-10_7445-9insAACC
NM_001042723.2:c.7445-10_7445-9insAACC	NP_001036188.1:n.7445-10_7445-9insAACC