Canonical Allele Identifier: CA2335088453

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572224A= , CM000681.2:g.38572224A=	GRCh38
NC_000019.9:g.39062864A= , CM000681.1:g.39062864A=	GRCh37
NC_000019.8:g.43754704A=	NCBI36
NG_008866.1:g.143525A= , LRG_766:g.143525A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.888A=
ENST00000688602.1:c.2285A=
ENST00000689936.1:c.2257A=
ENST00000359596.8:c.13952A= MANE Select	ENSP00000352608.2:p.His4651=
ENST00000355481.8:c.13937A=	ENSP00000347667.3:p.His4646=
ENST00000359596.7:c.13952A=	ENSP00000352608.2:p.His4651=
ENST00000360985.7:c.13934A=	ENSP00000354254.4:p.His4645=
ENST00000593677.1:c.412A=
NM_000540.2:c.13952A= , LRG_766t1:c.13952A=	NP_000531.2:p.His4651=
NM_001042723.1:c.13937A=	NP_001036188.1:p.His4646=
XM_006723317.1:c.13934A=	XP_006723380.1:p.His4645=
XM_006723319.1:c.13919A=	XP_006723382.1:p.His4640=
XM_011527204.1:c.13949A=	XP_011525506.1:p.His4650=
XM_011527205.1:c.13865A=	XP_011525507.1:p.His4622=
XM_006723317.2:c.13934A=	XP_006723380.1:p.His4645=
XM_006723319.2:c.13919A=	XP_006723382.1:p.His4640=
XM_011527205.2:c.13865A=	XP_011525507.1:p.His4622=
NM_000540.3:c.13952A= MANE Select	NP_000531.2:p.His4651=
NM_001042723.2:c.13937A=	NP_001036188.1:p.His4646=