Canonical Allele Identifier: CA2335094955

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585001T= , CM000681.2:g.38585001T=	GRCh38
NC_000019.9:g.39075641T= , CM000681.1:g.39075641T=	GRCh37
NC_000019.8:g.43767481T=	NCBI36
NG_008866.1:g.156302T= , LRG_766:g.156302T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1641T=
ENST00000688602.1:c.3038T=
ENST00000689936.1:c.3010T=
ENST00000692547.1:n.98T=
ENST00000359596.8:c.14705T= MANE Select	ENSP00000352608.2:p.Ile4902=
ENST00000355481.8:c.14690T=	ENSP00000347667.3:p.Ile4897=
ENST00000359596.7:c.14705T=	ENSP00000352608.2:p.Ile4902=
ENST00000360985.7:c.14687T=	ENSP00000354254.4:p.Ile4896=
NM_000540.2:c.14705T= , LRG_766t1:c.14705T=	NP_000531.2:p.Ile4902=
NM_001042723.1:c.14690T=	NP_001036188.1:p.Ile4897=
XM_006723317.1:c.14687T=	XP_006723380.1:p.Ile4896=
XM_006723319.1:c.14672T=	XP_006723382.1:p.Ile4891=
XM_011527204.1:c.14702T=	XP_011525506.1:p.Ile4901=
XM_011527205.1:c.14618T=	XP_011525507.1:p.Ile4873=
XM_006723317.2:c.14687T=	XP_006723380.1:p.Ile4896=
XM_006723319.2:c.14672T=	XP_006723382.1:p.Ile4891=
XM_011527205.2:c.14618T=	XP_011525507.1:p.Ile4873=
NM_000540.3:c.14705T= MANE Select	NP_000531.2:p.Ile4902=
NM_001042723.2:c.14690T=	NP_001036188.1:p.Ile4897=