Canonical Allele Identifier: CA2335074522

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543782C= , CM000681.2:g.38543782C=	GRCh38
NC_000019.9:g.39034422C= , CM000681.1:g.39034422C=	GRCh37
NC_000019.8:g.43726262C=	NCBI36
NG_008866.1:g.115083C= , LRG_766:g.115083C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.329C=
ENST00000689936.1:c.311C=
ENST00000359596.8:c.11919C= MANE Select	ENSP00000352608.2:p.Thr3973=
ENST00000355481.8:c.11904C=	ENSP00000347667.3:p.Thr3968=
ENST00000359596.7:c.11919C=	ENSP00000352608.2:p.Thr3973=
ENST00000360985.7:c.11901C=	ENSP00000354254.4:p.Thr3967=
ENST00000593322.1:c.528C=
ENST00000594335.5:c.5288C=
NM_000540.2:c.11919C= , LRG_766t1:c.11919C=	NP_000531.2:p.Thr3973=
NM_001042723.1:c.11904C=	NP_001036188.1:p.Thr3968=
XM_006723317.1:c.11901C=	XP_006723380.1:p.Thr3967=
XM_006723319.1:c.11886C=	XP_006723382.1:p.Thr3962=
XM_011527204.1:c.11916C=	XP_011525506.1:p.Thr3972=
XM_011527205.1:c.11919C=	XP_011525507.1:p.Thr3973=
XM_006723317.2:c.11901C=	XP_006723380.1:p.Thr3967=
XM_006723319.2:c.11886C=	XP_006723382.1:p.Thr3962=
XM_011527205.2:c.11919C=	XP_011525507.1:p.Thr3973=
NM_000540.3:c.11919C= MANE Select	NP_000531.2:p.Thr3973=
NM_001042723.2:c.11904C=	NP_001036188.1:p.Thr3968=