Canonical Allele Identifier: CA2335074527

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543792C= , CM000681.2:g.38543792C=	GRCh38
NC_000019.9:g.39034432C= , CM000681.1:g.39034432C=	GRCh37
NC_000019.8:g.43726272C=	NCBI36
NG_008866.1:g.115093C= , LRG_766:g.115093C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.339C=
ENST00000689936.1:c.321C=
ENST00000359596.8:c.11929C= MANE Select	ENSP00000352608.2:p.Gln3977=
ENST00000355481.8:c.11914C=	ENSP00000347667.3:p.Gln3972=
ENST00000359596.7:c.11929C=	ENSP00000352608.2:p.Gln3977=
ENST00000360985.7:c.11911C=	ENSP00000354254.4:p.Gln3971=
ENST00000593322.1:c.538C=
ENST00000594335.5:c.5298C=
NM_000540.2:c.11929C= , LRG_766t1:c.11929C=	NP_000531.2:p.Gln3977=
NM_001042723.1:c.11914C=	NP_001036188.1:p.Gln3972=
XM_006723317.1:c.11911C=	XP_006723380.1:p.Gln3971=
XM_006723319.1:c.11896C=	XP_006723382.1:p.Gln3966=
XM_011527204.1:c.11926C=	XP_011525506.1:p.Gln3976=
XM_011527205.1:c.11929C=	XP_011525507.1:p.Gln3977=
XM_006723317.2:c.11911C=	XP_006723380.1:p.Gln3971=
XM_006723319.2:c.11896C=	XP_006723382.1:p.Gln3966=
XM_011527205.2:c.11929C=	XP_011525507.1:p.Gln3977=
NM_000540.3:c.11929C= MANE Select	NP_000531.2:p.Gln3977=
NM_001042723.2:c.11914C=	NP_001036188.1:p.Gln3972=