Canonical Allele Identifier: CA308120099

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38452150_38452151dup , CM000681.2:g.38452150_38452151dup	GRCh38
NC_000019.9:g.38942790_38942791dup , CM000681.1:g.38942790_38942791dup	GRCh37
NC_000019.8:g.43634630_43634631dup	NCBI36
NG_008866.1:g.23451_23452dup , LRG_766:g.23451_23452dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.1244+265_1244+266dup MANE Select	NP_000531.2:n.1244+265_1244+266dup
ENST00000359596.8:c.1244+265_1244+266dup MANE Select	ENSP00000352608.2:n.1244+265_1244+266dup
NM_000540.2:c.1244+265_1244+266dup , LRG_766t1:c.1244+265_1244+266dup	NP_000531.2:n.1244+265_1244+266dup
NM_001042723.1:c.1244+265_1244+266dup	NP_001036188.1:n.1244+265_1244+266dup
NM_001042723.2:c.1244+265_1244+266dup	NP_001036188.1:n.1244+265_1244+266dup
ENST00000355481.8:c.1244+265_1244+266dup	ENSP00000347667.3:n.1244+265_1244+266dup
ENST00000359596.7:c.1244+265_1244+266dup	ENSP00000352608.2:n.1244+265_1244+266dup
ENST00000360985.7:c.1244+265_1244+266dup	ENSP00000354254.4:n.1244+265_1244+266dup
ENST00000599547.6:c.1244+265_1244+266dup	ENSP00000471601.2:n.1244+265_1244+266dup
XM_006723317.1:c.1244+265_1244+266dup	XP_006723380.1:n.1244+265_1244+266dup
XM_006723317.2:c.1244+265_1244+266dup	XP_006723380.1:n.1244+265_1244+266dup
XM_006723319.1:c.1244+265_1244+266dup	XP_006723382.1:n.1244+265_1244+266dup
XM_006723319.2:c.1244+265_1244+266dup	XP_006723382.1:n.1244+265_1244+266dup
XM_011527204.1:c.1241+265_1241+266dup	XP_011525506.1:n.1241+265_1241+266dup
XM_011527205.1:c.1244+265_1244+266dup	XP_011525507.1:n.1244+265_1244+266dup
XM_011527205.2:c.1244+265_1244+266dup	XP_011525507.1:n.1244+265_1244+266dup
XR_001753735.1:n.1327+265_1327+266dup