Canonical Allele Identifier: CA2335094929

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584955C= , CM000681.2:g.38584955C=	GRCh38
NC_000019.9:g.39075595C= , CM000681.1:g.39075595C=	GRCh37
NC_000019.8:g.43767435C=	NCBI36
NG_008866.1:g.156256C= , LRG_766:g.156256C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14659C= MANE Select	NP_000531.2:p.His4887=
ENST00000359596.8:c.14659C= MANE Select	ENSP00000352608.2:p.His4887=
NM_000540.2:c.14659C= , LRG_766t1:c.14659C=	NP_000531.2:p.His4887=
NM_001042723.1:c.14644C=	NP_001036188.1:p.His4882=
NM_001042723.2:c.14644C=	NP_001036188.1:p.His4882=
ENST00000355481.8:c.14644C=	ENSP00000347667.3:p.His4882=
ENST00000359596.7:c.14659C=	ENSP00000352608.2:p.His4887=
ENST00000360985.7:c.14641C=	ENSP00000354254.4:p.His4881=
ENST00000593677.2:c.1595C=
ENST00000688602.1:c.2992C=
ENST00000689936.1:c.2964C=
ENST00000692547.1:n.52C=
XM_006723317.1:c.14641C=	XP_006723380.1:p.His4881=
XM_006723317.2:c.14641C=	XP_006723380.1:p.His4881=
XM_006723319.1:c.14626C=	XP_006723382.1:p.His4876=
XM_006723319.2:c.14626C=	XP_006723382.1:p.His4876=
XM_011527204.1:c.14656C=	XP_011525506.1:p.His4886=
XM_011527205.1:c.14572C=	XP_011525507.1:p.His4858=
XM_011527205.2:c.14572C=	XP_011525507.1:p.His4858=