Canonical Allele Identifier: CA2335089021

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573305G= , CM000681.2:g.38573305G=	GRCh38
NC_000019.9:g.39063945G= , CM000681.1:g.39063945G=	GRCh37
NC_000019.8:g.43755785G=	NCBI36
NG_008866.1:g.144606G= , LRG_766:g.144606G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1063G=
ENST00000688602.1:c.2460G=
ENST00000689936.1:c.2432G=
ENST00000359596.8:c.14127G= MANE Select	ENSP00000352608.2:p.Thr4709=
ENST00000355481.8:c.14112G=	ENSP00000347667.3:p.Thr4704=
ENST00000359596.7:c.14127G=	ENSP00000352608.2:p.Thr4709=
ENST00000360985.7:c.14109G=	ENSP00000354254.4:p.Thr4703=
NM_000540.2:c.14127G= , LRG_766t1:c.14127G=	NP_000531.2:p.Thr4709=
NM_001042723.1:c.14112G=	NP_001036188.1:p.Thr4704=
XM_006723317.1:c.14109G=	XP_006723380.1:p.Thr4703=
XM_006723319.1:c.14094G=	XP_006723382.1:p.Thr4698=
XM_011527204.1:c.14124G=	XP_011525506.1:p.Thr4708=
XM_011527205.1:c.14040G=	XP_011525507.1:p.Thr4680=
XM_006723317.2:c.14109G=	XP_006723380.1:p.Thr4703=
XM_006723319.2:c.14094G=	XP_006723382.1:p.Thr4698=
XM_011527205.2:c.14040G=	XP_011525507.1:p.Thr4680=
NM_000540.3:c.14127G= MANE Select	NP_000531.2:p.Thr4709=
NM_001042723.2:c.14112G=	NP_001036188.1:p.Thr4704=