Canonical Allele Identifier: CA2335088431

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572181A= , CM000681.2:g.38572181A=	GRCh38
NC_000019.9:g.39062821A= , CM000681.1:g.39062821A=	GRCh37
NC_000019.8:g.43754661A=	NCBI36
NG_008866.1:g.143482A= , LRG_766:g.143482A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13909A= MANE Select	NP_000531.2:p.Thr4637=
ENST00000359596.8:c.13909A= MANE Select	ENSP00000352608.2:p.Thr4637=
NM_000540.2:c.13909A= , LRG_766t1:c.13909A=	NP_000531.2:p.Thr4637=
NM_001042723.1:c.13894A=	NP_001036188.1:p.Thr4632=
NM_001042723.2:c.13894A=	NP_001036188.1:p.Thr4632=
ENST00000355481.8:c.13894A=	ENSP00000347667.3:p.Thr4632=
ENST00000359596.7:c.13909A=	ENSP00000352608.2:p.Thr4637=
ENST00000360985.7:c.13891A=	ENSP00000354254.4:p.Thr4631=
ENST00000593677.1:c.369A=
ENST00000593677.2:c.845A=
ENST00000688602.1:c.2242A=
ENST00000689936.1:c.2214A=
XM_006723317.1:c.13891A=	XP_006723380.1:p.Thr4631=
XM_006723317.2:c.13891A=	XP_006723380.1:p.Thr4631=
XM_006723319.1:c.13876A=	XP_006723382.1:p.Thr4626=
XM_006723319.2:c.13876A=	XP_006723382.1:p.Thr4626=
XM_011527204.1:c.13906A=	XP_011525506.1:p.Thr4636=
XM_011527205.1:c.13822A=	XP_011525507.1:p.Thr4608=
XM_011527205.2:c.13822A=	XP_011525507.1:p.Thr4608=