Canonical Allele Identifier: CA2335074437

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543630G= , CM000681.2:g.38543630G=	GRCh38
NC_000019.9:g.39034270G= , CM000681.1:g.39034270G=	GRCh37
NC_000019.8:g.43726110G=	NCBI36
NG_008866.1:g.114931G= , LRG_766:g.114931G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.287G=
ENST00000689936.1:c.269G=
ENST00000359596.8:c.11877G= MANE Select	ENSP00000352608.2:p.Gln3959=
ENST00000355481.8:c.11862G=	ENSP00000347667.3:p.Gln3954=
ENST00000359596.7:c.11877G=	ENSP00000352608.2:p.Gln3959=
ENST00000360985.7:c.11859G=	ENSP00000354254.4:p.Gln3953=
ENST00000593322.1:c.486G=
ENST00000594335.5:c.5246G=
NM_000540.2:c.11877G= , LRG_766t1:c.11877G=	NP_000531.2:p.Gln3959=
NM_001042723.1:c.11862G=	NP_001036188.1:p.Gln3954=
XM_006723317.1:c.11859G=	XP_006723380.1:p.Gln3953=
XM_006723319.1:c.11844G=	XP_006723382.1:p.Gln3948=
XM_011527204.1:c.11874G=	XP_011525506.1:p.Gln3958=
XM_011527205.1:c.11877G=	XP_011525507.1:p.Gln3959=
XM_006723317.2:c.11859G=	XP_006723380.1:p.Gln3953=
XM_006723319.2:c.11844G=	XP_006723382.1:p.Gln3948=
XM_011527205.2:c.11877G=	XP_011525507.1:p.Gln3959=
NM_000540.3:c.11877G= MANE Select	NP_000531.2:p.Gln3959=
NM_001042723.2:c.11862G=	NP_001036188.1:p.Gln3954=