Canonical Allele Identifier: CA2335084867

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565413G= , CM000681.2:g.38565413G=	GRCh38
NC_000019.9:g.39056053G= , CM000681.1:g.39056053G=	GRCh37
NC_000019.8:g.43747893G=	NCBI36
NG_008866.1:g.136714G= , LRG_766:g.136714G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.15G=
ENST00000688602.1:c.1489G=
ENST00000689936.1:c.1471G=
ENST00000359596.8:c.13079G= MANE Select	ENSP00000352608.2:p.Gly4360=
ENST00000355481.8:c.13064G=	ENSP00000347667.3:p.Gly4355=
ENST00000359596.7:c.13079G=	ENSP00000352608.2:p.Gly4360=
ENST00000360985.7:c.13061G=	ENSP00000354254.4:p.Gly4354=
NM_000540.2:c.13079G= , LRG_766t1:c.13079G=	NP_000531.2:p.Gly4360=
NM_001042723.1:c.13064G=	NP_001036188.1:p.Gly4355=
XM_006723317.1:c.13061G=	XP_006723380.1:p.Gly4354=
XM_006723319.1:c.13046G=	XP_006723382.1:p.Gly4349=
XM_011527204.1:c.13076G=	XP_011525506.1:p.Gly4359=
XM_011527205.1:c.13079G=	XP_011525507.1:p.Gly4360=
XM_006723317.2:c.13061G=	XP_006723380.1:p.Gly4354=
XM_006723319.2:c.13046G=	XP_006723382.1:p.Gly4349=
XM_011527205.2:c.13079G=	XP_011525507.1:p.Gly4360=
NM_000540.3:c.13079G= MANE Select	NP_000531.2:p.Gly4360=
NM_001042723.2:c.13064G=	NP_001036188.1:p.Gly4355=