Canonical Allele Identifier: CA2838266747

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38567964C>A , CM000681.2:g.38567964C>A	GRCh38
NC_000019.9:g.39058604C>A , CM000681.1:g.39058604C>A	GRCh37
NC_000019.8:g.43750444C>A	NCBI36
NG_008866.1:g.139265C>A , LRG_766:g.139265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.595+47C>A
ENST00000688602.1:c.1992+47C>A
ENST00000689936.1:c.2051+47C>A
ENST00000359596.8:c.13659+47C>A MANE Select	ENSP00000352608.2:n.13659+47C>A
ENST00000355481.8:c.13644+47C>A	ENSP00000347667.3:n.13644+47C>A
ENST00000359596.7:c.13659+47C>A	ENSP00000352608.2:n.13659+47C>A
ENST00000360985.7:c.13641+47C>A	ENSP00000354254.4:n.13641+47C>A
ENST00000593677.1:c.206+47C>A
NM_000540.2:c.13659+47C>A , LRG_766t1:c.13659+47C>A	NP_000531.2:n.13659+47C>A
NM_001042723.1:c.13644+47C>A	NP_001036188.1:n.13644+47C>A
XM_006723317.1:c.13641+47C>A	XP_006723380.1:n.13641+47C>A
XM_006723319.1:c.13626+47C>A	XP_006723382.1:n.13626+47C>A
XM_011527204.1:c.13656+47C>A	XP_011525506.1:n.13656+47C>A
XM_011527205.1:c.13659+47C>A	XP_011525507.1:n.13659+47C>A
XM_006723317.2:c.13641+47C>A	XP_006723380.1:n.13641+47C>A
XM_006723319.2:c.13626+47C>A	XP_006723382.1:n.13626+47C>A
XM_011527205.2:c.13659+47C>A	XP_011525507.1:n.13659+47C>A
NM_000540.3:c.13659+47C>A MANE Select	NP_000531.2:n.13659+47C>A
NM_001042723.2:c.13644+47C>A	NP_001036188.1:n.13644+47C>A