Canonical Allele Identifier: CA2335095625

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586240A= , CM000681.2:g.38586240A=	GRCh38
NC_000019.9:g.39076880A= , CM000681.1:g.39076880A=	GRCh37
NC_000019.8:g.43768720A=	NCBI36
NG_008866.1:g.157541A= , LRG_766:g.157541A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+49A=
ENST00000688602.1:c.3302+49A=
ENST00000689936.1:c.3274+49A=
ENST00000692547.1:n.362+49A=
ENST00000359596.8:c.14969+49A= MANE Select	ENSP00000352608.2:n.14969+49A=
ENST00000355481.8:c.14954+49A=	ENSP00000347667.3:n.14954+49A=
ENST00000359596.7:c.14969+49A=	ENSP00000352608.2:n.14969+49A=
ENST00000360985.7:c.14951+49A=	ENSP00000354254.4:n.14951+49A=
NM_000540.2:c.14969+49A= , LRG_766t1:c.14969+49A=	NP_000531.2:n.14969+49A=
NM_001042723.1:c.14954+49A=	NP_001036188.1:n.14954+49A=
XM_006723317.1:c.14951+49A=	XP_006723380.1:n.14951+49A=
XM_006723319.1:c.14936+49A=	XP_006723382.1:n.14936+49A=
XM_011527204.1:c.14966+49A=	XP_011525506.1:n.14966+49A=
XM_011527205.1:c.14882+49A=	XP_011525507.1:n.14882+49A=
XM_006723317.2:c.14951+49A=	XP_006723380.1:n.14951+49A=
XM_006723319.2:c.14936+49A=	XP_006723382.1:n.14936+49A=
XM_011527205.2:c.14882+49A=	XP_011525507.1:n.14882+49A=
NM_000540.3:c.14969+49A= MANE Select	NP_000531.2:n.14969+49A=
NM_001042723.2:c.14954+49A=	NP_001036188.1:n.14954+49A=