Canonical Allele Identifier: CA2335096118

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587351A= , CM000681.2:g.38587351A=	GRCh38
NC_000019.9:g.39077991A= , CM000681.1:g.39077991A=	GRCh37
NC_000019.8:g.43769831A=	NCBI36
NG_008866.1:g.158652A= , LRG_766:g.158652A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+775A=
ENST00000688602.1:c.3381A=
ENST00000689936.1:c.3353A=
ENST00000692547.1:n.441A=
ENST00000359596.8:c.15048A= MANE Select	ENSP00000352608.2:p.Gln5016=
ENST00000355481.8:c.15033A=	ENSP00000347667.3:p.Gln5011=
ENST00000359596.7:c.15048A=	ENSP00000352608.2:p.Gln5016=
ENST00000360985.7:c.15030A=	ENSP00000354254.4:p.Gln5010=
NM_000540.2:c.15048A= , LRG_766t1:c.15048A=	NP_000531.2:p.Gln5016=
NM_001042723.1:c.15033A=	NP_001036188.1:p.Gln5011=
XM_006723317.1:c.15030A=	XP_006723380.1:p.Gln5010=
XM_006723319.1:c.15015A=	XP_006723382.1:p.Gln5005=
XM_011527204.1:c.15045A=	XP_011525506.1:p.Gln5015=
XM_011527205.1:c.14961A=	XP_011525507.1:p.Gln4987=
XM_006723317.2:c.15030A=	XP_006723380.1:p.Gln5010=
XM_006723319.2:c.15015A=	XP_006723382.1:p.Gln5005=
XM_011527205.2:c.14961A=	XP_011525507.1:p.Gln4987=
NM_000540.3:c.15048A= MANE Select	NP_000531.2:p.Gln5016=
NM_001042723.2:c.15033A=	NP_001036188.1:p.Gln5011=