Canonical Allele Identifier: CA2335084936

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565531G= , CM000681.2:g.38565531G=	GRCh38
NC_000019.9:g.39056171G= , CM000681.1:g.39056171G=	GRCh37
NC_000019.8:g.43748011G=	NCBI36
NG_008866.1:g.136832G= , LRG_766:g.136832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.133G=
ENST00000688602.1:c.1607G=
ENST00000689936.1:c.1589G=
ENST00000359596.8:c.13197G= MANE Select	ENSP00000352608.2:p.Pro4399=
ENST00000355481.8:c.13182G=	ENSP00000347667.3:p.Pro4394=
ENST00000359596.7:c.13197G=	ENSP00000352608.2:p.Pro4399=
ENST00000360985.7:c.13179G=	ENSP00000354254.4:p.Pro4393=
NM_000540.2:c.13197G= , LRG_766t1:c.13197G=	NP_000531.2:p.Pro4399=
NM_001042723.1:c.13182G=	NP_001036188.1:p.Pro4394=
XM_006723317.1:c.13179G=	XP_006723380.1:p.Pro4393=
XM_006723319.1:c.13164G=	XP_006723382.1:p.Pro4388=
XM_011527204.1:c.13194G=	XP_011525506.1:p.Pro4398=
XM_011527205.1:c.13197G=	XP_011525507.1:p.Pro4399=
XM_006723317.2:c.13179G=	XP_006723380.1:p.Pro4393=
XM_006723319.2:c.13164G=	XP_006723382.1:p.Pro4388=
XM_011527205.2:c.13197G=	XP_011525507.1:p.Pro4399=
NM_000540.3:c.13197G= MANE Select	NP_000531.2:p.Pro4399=
NM_001042723.2:c.13182G=	NP_001036188.1:p.Pro4394=