Canonical Allele Identifier: CA2335095581

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586161C= , CM000681.2:g.38586161C=	GRCh38
NC_000019.9:g.39076801C= , CM000681.1:g.39076801C=	GRCh37
NC_000019.8:g.43768641C=	NCBI36
NG_008866.1:g.157462C= , LRG_766:g.157462C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1875C=
ENST00000688602.1:c.3272C=
ENST00000689936.1:c.3244C=
ENST00000692547.1:n.332C=
ENST00000359596.8:c.14939C= MANE Select	ENSP00000352608.2:p.Thr4980=
ENST00000355481.8:c.14924C=	ENSP00000347667.3:p.Thr4975=
ENST00000359596.7:c.14939C=	ENSP00000352608.2:p.Thr4980=
ENST00000360985.7:c.14921C=	ENSP00000354254.4:p.Thr4974=
NM_000540.2:c.14939C= , LRG_766t1:c.14939C=	NP_000531.2:p.Thr4980=
NM_001042723.1:c.14924C=	NP_001036188.1:p.Thr4975=
XM_006723317.1:c.14921C=	XP_006723380.1:p.Thr4974=
XM_006723319.1:c.14906C=	XP_006723382.1:p.Thr4969=
XM_011527204.1:c.14936C=	XP_011525506.1:p.Thr4979=
XM_011527205.1:c.14852C=	XP_011525507.1:p.Thr4951=
XM_006723317.2:c.14921C=	XP_006723380.1:p.Thr4974=
XM_006723319.2:c.14906C=	XP_006723382.1:p.Thr4969=
XM_011527205.2:c.14852C=	XP_011525507.1:p.Thr4951=
NM_000540.3:c.14939C= MANE Select	NP_000531.2:p.Thr4980=
NM_001042723.2:c.14924C=	NP_001036188.1:p.Thr4975=