Canonical Allele Identifier: CA2335084813

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565324C= , CM000681.2:g.38565324C=	GRCh38
NC_000019.9:g.39055964C= , CM000681.1:g.39055964C=	GRCh37
NC_000019.8:g.43747804C=	NCBI36
NG_008866.1:g.136625C= , LRG_766:g.136625C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1400C=
ENST00000689936.1:c.1382C=
ENST00000359596.8:c.12990C= MANE Select	ENSP00000352608.2:p.Thr4330=
ENST00000355481.8:c.12975C=	ENSP00000347667.3:p.Thr4325=
ENST00000359596.7:c.12990C=	ENSP00000352608.2:p.Thr4330=
ENST00000360985.7:c.12972C=	ENSP00000354254.4:p.Thr4324=
NM_000540.2:c.12990C= , LRG_766t1:c.12990C=	NP_000531.2:p.Thr4330=
NM_001042723.1:c.12975C=	NP_001036188.1:p.Thr4325=
XM_006723317.1:c.12972C=	XP_006723380.1:p.Thr4324=
XM_006723319.1:c.12957C=	XP_006723382.1:p.Thr4319=
XM_011527204.1:c.12987C=	XP_011525506.1:p.Thr4329=
XM_011527205.1:c.12990C=	XP_011525507.1:p.Thr4330=
XM_006723317.2:c.12972C=	XP_006723380.1:p.Thr4324=
XM_006723319.2:c.12957C=	XP_006723382.1:p.Thr4319=
XM_011527205.2:c.12990C=	XP_011525507.1:p.Thr4330=
NM_000540.3:c.12990C= MANE Select	NP_000531.2:p.Thr4330=
NM_001042723.2:c.12975C=	NP_001036188.1:p.Thr4325=