Canonical Allele Identifier: CA2335088421

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572165C= , CM000681.2:g.38572165C=	GRCh38
NC_000019.9:g.39062805C= , CM000681.1:g.39062805C=	GRCh37
NC_000019.8:g.43754645C=	NCBI36
NG_008866.1:g.143466C= , LRG_766:g.143466C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.829C=
ENST00000688602.1:c.2226C=
ENST00000689936.1:c.2198C=
ENST00000359596.8:c.13893C= MANE Select	ENSP00000352608.2:p.Tyr4631=
ENST00000355481.8:c.13878C=	ENSP00000347667.3:p.Tyr4626=
ENST00000359596.7:c.13893C=	ENSP00000352608.2:p.Tyr4631=
ENST00000360985.7:c.13875C=	ENSP00000354254.4:p.Tyr4625=
ENST00000593677.1:c.353C=
NM_000540.2:c.13893C= , LRG_766t1:c.13893C=	NP_000531.2:p.Tyr4631=
NM_001042723.1:c.13878C=	NP_001036188.1:p.Tyr4626=
XM_006723317.1:c.13875C=	XP_006723380.1:p.Tyr4625=
XM_006723319.1:c.13860C=	XP_006723382.1:p.Tyr4620=
XM_011527204.1:c.13890C=	XP_011525506.1:p.Tyr4630=
XM_011527205.1:c.13806C=	XP_011525507.1:p.Tyr4602=
XM_006723317.2:c.13875C=	XP_006723380.1:p.Tyr4625=
XM_006723319.2:c.13860C=	XP_006723382.1:p.Tyr4620=
XM_011527205.2:c.13806C=	XP_011525507.1:p.Tyr4602=
NM_000540.3:c.13893C= MANE Select	NP_000531.2:p.Tyr4631=
NM_001042723.2:c.13878C=	NP_001036188.1:p.Tyr4626=