Canonical Allele Identifier: CA2335088433

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572184G= , CM000681.2:g.38572184G=	GRCh38
NC_000019.9:g.39062824G= , CM000681.1:g.39062824G=	GRCh37
NC_000019.8:g.43754664G=	NCBI36
NG_008866.1:g.143485G= , LRG_766:g.143485G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13912G= MANE Select	NP_000531.2:p.Gly4638=
ENST00000359596.8:c.13912G= MANE Select	ENSP00000352608.2:p.Gly4638=
NM_000540.2:c.13912G= , LRG_766t1:c.13912G=	NP_000531.2:p.Gly4638=
NM_001042723.1:c.13897G=	NP_001036188.1:p.Gly4633=
NM_001042723.2:c.13897G=	NP_001036188.1:p.Gly4633=
ENST00000355481.8:c.13897G=	ENSP00000347667.3:p.Gly4633=
ENST00000359596.7:c.13912G=	ENSP00000352608.2:p.Gly4638=
ENST00000360985.7:c.13894G=	ENSP00000354254.4:p.Gly4632=
ENST00000593677.1:c.372G=
ENST00000593677.2:c.848G=
ENST00000688602.1:c.2245G=
ENST00000689936.1:c.2217G=
XM_006723317.1:c.13894G=	XP_006723380.1:p.Gly4632=
XM_006723317.2:c.13894G=	XP_006723380.1:p.Gly4632=
XM_006723319.1:c.13879G=	XP_006723382.1:p.Gly4627=
XM_006723319.2:c.13879G=	XP_006723382.1:p.Gly4627=
XM_011527204.1:c.13909G=	XP_011525506.1:p.Gly4637=
XM_011527205.1:c.13825G=	XP_011525507.1:p.Gly4609=
XM_011527205.2:c.13825G=	XP_011525507.1:p.Gly4609=