Canonical Allele Identifier: CA2335092509

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580486G= , CM000681.2:g.38580486G=	GRCh38
NC_000019.9:g.39071126G= , CM000681.1:g.39071126G=	GRCh37
NC_000019.8:g.43762966G=	NCBI36
NG_008866.1:g.151787G= , LRG_766:g.151787G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1564G=
ENST00000688602.1:c.2961G=
ENST00000689936.1:c.2933G=
ENST00000359596.8:c.14628G= MANE Select	ENSP00000352608.2:p.Lys4876=
ENST00000355481.8:c.14613G=	ENSP00000347667.3:p.Lys4871=
ENST00000359596.7:c.14628G=	ENSP00000352608.2:p.Lys4876=
ENST00000360985.7:c.14610G=	ENSP00000354254.4:p.Lys4870=
NM_000540.2:c.14628G= , LRG_766t1:c.14628G=	NP_000531.2:p.Lys4876=
NM_001042723.1:c.14613G=	NP_001036188.1:p.Lys4871=
XM_006723317.1:c.14610G=	XP_006723380.1:p.Lys4870=
XM_006723319.1:c.14595G=	XP_006723382.1:p.Lys4865=
XM_011527204.1:c.14625G=	XP_011525506.1:p.Lys4875=
XM_011527205.1:c.14541G=	XP_011525507.1:p.Lys4847=
XM_006723317.2:c.14610G=	XP_006723380.1:p.Lys4870=
XM_006723319.2:c.14595G=	XP_006723382.1:p.Lys4865=
XM_011527205.2:c.14541G=	XP_011525507.1:p.Lys4847=
NM_000540.3:c.14628G= MANE Select	NP_000531.2:p.Lys4876=
NM_001042723.2:c.14613G=	NP_001036188.1:p.Lys4871=