Canonical Allele Identifier: CA2335067458

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528615A= , CM000681.2:g.38528615A=	GRCh38
NC_000019.9:g.39019255A= , CM000681.1:g.39019255A=	GRCh37
NC_000019.8:g.43711095A=	NCBI36
NG_008866.1:g.99916A= , LRG_766:g.99916A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10893A=	ENSP00000471601.2:n.10893A=
ENST00000359596.8:c.10954A= MANE Select	ENSP00000352608.2:p.Met3652=
ENST00000355481.8:c.10939A=	ENSP00000347667.3:p.Met3647=
ENST00000359596.7:c.10954A=	ENSP00000352608.2:p.Met3652=
ENST00000360985.7:c.10936A=	ENSP00000354254.4:p.Met3646=
ENST00000594335.5:c.4341A=
ENST00000599547.5:c.1761A=
ENST00000601514.5:c.235A=	ENSP00000472497.1:p.Met79=
NM_000540.2:c.10954A= , LRG_766t1:c.10954A=	NP_000531.2:p.Met3652=
NM_001042723.1:c.10939A=	NP_001036188.1:p.Met3647=
XM_006723317.1:c.10954A=	XP_006723380.1:p.Met3652=
XM_006723319.1:c.10939A=	XP_006723382.1:p.Met3647=
XM_011527204.1:c.10951A=	XP_011525506.1:p.Met3651=
XM_011527205.1:c.10954A=	XP_011525507.1:p.Met3652=
XM_006723317.2:c.10954A=	XP_006723380.1:p.Met3652=
XM_006723319.2:c.10939A=	XP_006723382.1:p.Met3647=
XM_011527205.2:c.10954A=	XP_011525507.1:p.Met3652=
NM_000540.3:c.10954A= MANE Select	NP_000531.2:p.Met3652=
NM_001042723.2:c.10939A=	NP_001036188.1:p.Met3647=