Canonical Allele Identifier: CA2335094948

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584986G= , CM000681.2:g.38584986G=	GRCh38
NC_000019.9:g.39075626G= , CM000681.1:g.39075626G=	GRCh37
NC_000019.8:g.43767466G=	NCBI36
NG_008866.1:g.156287G= , LRG_766:g.156287G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1626G=
ENST00000688602.1:c.3023G=
ENST00000689936.1:c.2995G=
ENST00000692547.1:n.83G=
ENST00000359596.8:c.14690G= MANE Select	ENSP00000352608.2:p.Gly4897=
ENST00000355481.8:c.14675G=	ENSP00000347667.3:p.Gly4892=
ENST00000359596.7:c.14690G=	ENSP00000352608.2:p.Gly4897=
ENST00000360985.7:c.14672G=	ENSP00000354254.4:p.Gly4891=
NM_000540.2:c.14690G= , LRG_766t1:c.14690G=	NP_000531.2:p.Gly4897=
NM_001042723.1:c.14675G=	NP_001036188.1:p.Gly4892=
XM_006723317.1:c.14672G=	XP_006723380.1:p.Gly4891=
XM_006723319.1:c.14657G=	XP_006723382.1:p.Gly4886=
XM_011527204.1:c.14687G=	XP_011525506.1:p.Gly4896=
XM_011527205.1:c.14603G=	XP_011525507.1:p.Gly4868=
XM_006723317.2:c.14672G=	XP_006723380.1:p.Gly4891=
XM_006723319.2:c.14657G=	XP_006723382.1:p.Gly4886=
XM_011527205.2:c.14603G=	XP_011525507.1:p.Gly4868=
NM_000540.3:c.14690G= MANE Select	NP_000531.2:p.Gly4897=
NM_001042723.2:c.14675G=	NP_001036188.1:p.Gly4892=