Canonical Allele Identifier: CA2335084924

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565514G= , CM000681.2:g.38565514G=	GRCh38
NC_000019.9:g.39056154G= , CM000681.1:g.39056154G=	GRCh37
NC_000019.8:g.43747994G=	NCBI36
NG_008866.1:g.136815G= , LRG_766:g.136815G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.116G=
ENST00000688602.1:c.1590G=
ENST00000689936.1:c.1572G=
ENST00000359596.8:c.13180G= MANE Select	ENSP00000352608.2:p.Glu4394=
ENST00000355481.8:c.13165G=	ENSP00000347667.3:p.Glu4389=
ENST00000359596.7:c.13180G=	ENSP00000352608.2:p.Glu4394=
ENST00000360985.7:c.13162G=	ENSP00000354254.4:p.Glu4388=
NM_000540.2:c.13180G= , LRG_766t1:c.13180G=	NP_000531.2:p.Glu4394=
NM_001042723.1:c.13165G=	NP_001036188.1:p.Glu4389=
XM_006723317.1:c.13162G=	XP_006723380.1:p.Glu4388=
XM_006723319.1:c.13147G=	XP_006723382.1:p.Glu4383=
XM_011527204.1:c.13177G=	XP_011525506.1:p.Glu4393=
XM_011527205.1:c.13180G=	XP_011525507.1:p.Glu4394=
XM_006723317.2:c.13162G=	XP_006723380.1:p.Glu4388=
XM_006723319.2:c.13147G=	XP_006723382.1:p.Glu4383=
XM_011527205.2:c.13180G=	XP_011525507.1:p.Glu4394=
NM_000540.3:c.13180G= MANE Select	NP_000531.2:p.Glu4394=
NM_001042723.2:c.13165G=	NP_001036188.1:p.Glu4389=