Canonical Allele Identifier: CA061296

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580066A>G , CM000681.2:g.38580066A>G	GRCh38
NC_000019.9:g.39070706A>G , CM000681.1:g.39070706A>G	GRCh37
NC_000019.8:g.43762546A>G	NCBI36
NG_008866.1:g.151367A>G , LRG_766:g.151367A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14449A>G MANE Select	NP_000531.2:p.Ile4817Val
ENST00000359596.8:c.14449A>G MANE Select	ENSP00000352608.2:p.Ile4817Val
NM_000540.2:c.14449A>G , LRG_766t1:c.14449A>G	NP_000531.2:p.Ile4817Val
NM_001042723.1:c.14434A>G	NP_001036188.1:p.Ile4812Val
NM_001042723.2:c.14434A>G	NP_001036188.1:p.Ile4812Val
ENST00000355481.8:c.14434A>G	ENSP00000347667.3:p.Ile4812Val
ENST00000359596.7:c.14449A>G	ENSP00000352608.2:p.Ile4817Val
ENST00000360985.7:c.14431A>G	ENSP00000354254.4:p.Ile4811Val
ENST00000593677.2:c.1385A>G
ENST00000688602.1:c.2782A>G
ENST00000689936.1:c.2754A>G
XM_006723317.1:c.14431A>G	XP_006723380.1:p.Ile4811Val
XM_006723317.2:c.14431A>G	XP_006723380.1:p.Ile4811Val
XM_006723319.1:c.14416A>G	XP_006723382.1:p.Ile4806Val
XM_006723319.2:c.14416A>G	XP_006723382.1:p.Ile4806Val
XM_011527204.1:c.14446A>G	XP_011525506.1:p.Ile4816Val
XM_011527205.1:c.14362A>G	XP_011525507.1:p.Ile4788Val
XM_011527205.2:c.14362A>G	XP_011525507.1:p.Ile4788Val