Canonical Allele Identifier: CA2335058731

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510370_38510371delinsCA , CM000681.2:g.38510370_38510371delinsCA	GRCh38
NC_000019.9:g.39001010_39001011delinsCA , CM000681.1:g.39001010_39001011delinsCA	GRCh37
NC_000019.8:g.43692850_43692851delinsCA	NCBI36
NG_008866.1:g.81671_81672delinsCA , LRG_766:g.81671_81672delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.8933-128_8933-127delinsCA	ENSP00000471601.2:n.8933-128_8933-127delinsCA
ENST00000359596.8:c.8933-128_8933-127delinsCA MANE Select	ENSP00000352608.2:n.8933-128_8933-127delinsCA
ENST00000355481.8:c.8933-128_8933-127delinsCA	ENSP00000347667.3:n.8933-128_8933-127delinsCA
ENST00000359596.7:c.8933-128_8933-127delinsCA	ENSP00000352608.2:n.8933-128_8933-127delinsCA
ENST00000360985.7:c.8930-128_8930-127delinsCA	ENSP00000354254.4:n.8930-128_8930-127delinsCA
ENST00000594335.5:c.2385-128_2385-127delinsCA
NM_000540.2:c.8933-128_8933-127delinsCA , LRG_766t1:c.8933-128_8933-127delinsCA	NP_000531.2:n.8933-128_8933-127delinsCA
NM_001042723.1:c.8933-128_8933-127delinsCA	NP_001036188.1:n.8933-128_8933-127delinsCA
XM_006723317.1:c.8933-128_8933-127delinsCA	XP_006723380.1:n.8933-128_8933-127delinsCA
XM_006723319.1:c.8933-128_8933-127delinsCA	XP_006723382.1:n.8933-128_8933-127delinsCA
XM_011527204.1:c.8930-128_8930-127delinsCA	XP_011525506.1:n.8930-128_8930-127delinsCA
XM_011527205.1:c.8933-128_8933-127delinsCA	XP_011525507.1:n.8933-128_8933-127delinsCA
XM_006723317.2:c.8933-128_8933-127delinsCA	XP_006723380.1:n.8933-128_8933-127delinsCA
XM_006723319.2:c.8933-128_8933-127delinsCA	XP_006723382.1:n.8933-128_8933-127delinsCA
XM_011527205.2:c.8933-128_8933-127delinsCA	XP_011525507.1:n.8933-128_8933-127delinsCA
XR_001753735.1:n.9016-128_9016-127delinsCA
NM_000540.3:c.8933-128_8933-127delinsCA MANE Select	NP_000531.2:n.8933-128_8933-127delinsCA
NM_001042723.2:c.8933-128_8933-127delinsCA	NP_001036188.1:n.8933-128_8933-127delinsCA