Canonical Allele Identifier: CA2335074427

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543589G= , CM000681.2:g.38543589G=	GRCh38
NC_000019.9:g.39034229G= , CM000681.1:g.39034229G=	GRCh37
NC_000019.8:g.43726069G=	NCBI36
NG_008866.1:g.114890G= , LRG_766:g.114890G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.246G=
ENST00000689936.1:c.228G=
ENST00000359596.8:c.11836G= MANE Select	ENSP00000352608.2:p.Gly3946=
ENST00000355481.8:c.11821G=	ENSP00000347667.3:p.Gly3941=
ENST00000359596.7:c.11836G=	ENSP00000352608.2:p.Gly3946=
ENST00000360985.7:c.11818G=	ENSP00000354254.4:p.Gly3940=
ENST00000593322.1:c.445G=
ENST00000594335.5:c.5205G=
NM_000540.2:c.11836G= , LRG_766t1:c.11836G=	NP_000531.2:p.Gly3946=
NM_001042723.1:c.11821G=	NP_001036188.1:p.Gly3941=
XM_006723317.1:c.11818G=	XP_006723380.1:p.Gly3940=
XM_006723319.1:c.11803G=	XP_006723382.1:p.Gly3935=
XM_011527204.1:c.11833G=	XP_011525506.1:p.Gly3945=
XM_011527205.1:c.11836G=	XP_011525507.1:p.Gly3946=
XM_006723317.2:c.11818G=	XP_006723380.1:p.Gly3940=
XM_006723319.2:c.11803G=	XP_006723382.1:p.Gly3935=
XM_011527205.2:c.11836G=	XP_011525507.1:p.Gly3946=
NM_000540.3:c.11836G= MANE Select	NP_000531.2:p.Gly3946=
NM_001042723.2:c.11821G=	NP_001036188.1:p.Gly3941=