Canonical Allele Identifier: CA2335094963

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585013C= , CM000681.2:g.38585013C=	GRCh38
NC_000019.9:g.39075653C= , CM000681.1:g.39075653C=	GRCh37
NC_000019.8:g.43767493C=	NCBI36
NG_008866.1:g.156314C= , LRG_766:g.156314C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1653C=
ENST00000688602.1:c.3050C=
ENST00000689936.1:c.3022C=
ENST00000692547.1:n.110C=
ENST00000359596.8:c.14717C= MANE Select	ENSP00000352608.2:p.Ala4906=
ENST00000355481.8:c.14702C=	ENSP00000347667.3:p.Ala4901=
ENST00000359596.7:c.14717C=	ENSP00000352608.2:p.Ala4906=
ENST00000360985.7:c.14699C=	ENSP00000354254.4:p.Ala4900=
NM_000540.2:c.14717C= , LRG_766t1:c.14717C=	NP_000531.2:p.Ala4906=
NM_001042723.1:c.14702C=	NP_001036188.1:p.Ala4901=
XM_006723317.1:c.14699C=	XP_006723380.1:p.Ala4900=
XM_006723319.1:c.14684C=	XP_006723382.1:p.Ala4895=
XM_011527204.1:c.14714C=	XP_011525506.1:p.Ala4905=
XM_011527205.1:c.14630C=	XP_011525507.1:p.Ala4877=
XM_006723317.2:c.14699C=	XP_006723380.1:p.Ala4900=
XM_006723319.2:c.14684C=	XP_006723382.1:p.Ala4895=
XM_011527205.2:c.14630C=	XP_011525507.1:p.Ala4877=
NM_000540.3:c.14717C= MANE Select	NP_000531.2:p.Ala4906=
NM_001042723.2:c.14702C=	NP_001036188.1:p.Ala4901=