Canonical Allele Identifier: CA405665017

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38548231A>G , CM000681.2:g.38548231A>G	GRCh38
NC_000019.9:g.39038871A>G , CM000681.1:g.39038871A>G	GRCh37
NC_000019.8:g.43730711A>G	NCBI36
NG_008866.1:g.119532A>G , LRG_766:g.119532A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12095-2A>G MANE Select	NP_000531.2:n.12095-2A>G
ENST00000359596.8:c.12095-2A>G MANE Select	ENSP00000352608.2:n.12095-2A>G
NM_000540.2:c.12095-2A>G , LRG_766t1:c.12095-2A>G	NP_000531.2:n.12095-2A>G
NM_001042723.1:c.12080-2A>G	NP_001036188.1:n.12080-2A>G
NM_001042723.2:c.12080-2A>G	NP_001036188.1:n.12080-2A>G
ENST00000355481.8:c.12080-2A>G	ENSP00000347667.3:n.12080-2A>G
ENST00000359596.7:c.12095-2A>G	ENSP00000352608.2:n.12095-2A>G
ENST00000360985.7:c.12077-2A>G	ENSP00000354254.4:n.12077-2A>G
ENST00000593322.1:c.704-2A>G
ENST00000594335.5:c.5464-2A>G
ENST00000688602.1:c.505-2A>G
ENST00000689936.1:c.487-2A>G
XM_006723317.1:c.12077-2A>G	XP_006723380.1:n.12077-2A>G
XM_006723317.2:c.12077-2A>G	XP_006723380.1:n.12077-2A>G
XM_006723319.1:c.12062-2A>G	XP_006723382.1:n.12062-2A>G
XM_006723319.2:c.12062-2A>G	XP_006723382.1:n.12062-2A>G
XM_011527204.1:c.12092-2A>G	XP_011525506.1:n.12092-2A>G
XM_011527205.1:c.12095-2A>G	XP_011525507.1:n.12095-2A>G
XM_011527205.2:c.12095-2A>G	XP_011525507.1:n.12095-2A>G