Canonical Allele Identifier: CA2335074333

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543411T= , CM000681.2:g.38543411T=	GRCh38
NC_000019.9:g.39034051T= , CM000681.1:g.39034051T=	GRCh37
NC_000019.8:g.43725891T=	NCBI36
NG_008866.1:g.114712T= , LRG_766:g.114712T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.164T=
ENST00000689936.1:c.146T=
ENST00000359596.8:c.11754T= MANE Select	ENSP00000352608.2:p.Thr3918=
ENST00000355481.8:c.11739T=	ENSP00000347667.3:p.Thr3913=
ENST00000359596.7:c.11754T=	ENSP00000352608.2:p.Thr3918=
ENST00000360985.7:c.11736T=	ENSP00000354254.4:p.Thr3912=
ENST00000593322.1:c.363T=
ENST00000594335.5:c.5123T=
NM_000540.2:c.11754T= , LRG_766t1:c.11754T=	NP_000531.2:p.Thr3918=
NM_001042723.1:c.11739T=	NP_001036188.1:p.Thr3913=
XM_006723317.1:c.11736T=	XP_006723380.1:p.Thr3912=
XM_006723319.1:c.11721T=	XP_006723382.1:p.Thr3907=
XM_011527204.1:c.11751T=	XP_011525506.1:p.Thr3917=
XM_011527205.1:c.11754T=	XP_011525507.1:p.Thr3918=
XM_006723317.2:c.11736T=	XP_006723380.1:p.Thr3912=
XM_006723319.2:c.11721T=	XP_006723382.1:p.Thr3907=
XM_011527205.2:c.11754T=	XP_011525507.1:p.Thr3918=
NM_000540.3:c.11754T= MANE Select	NP_000531.2:p.Thr3918=
NM_001042723.2:c.11739T=	NP_001036188.1:p.Thr3913=