Canonical Allele Identifier: CA2335088439

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572196C= , CM000681.2:g.38572196C=	GRCh38
NC_000019.9:g.39062836C= , CM000681.1:g.39062836C=	GRCh37
NC_000019.8:g.43754676C=	NCBI36
NG_008866.1:g.143497C= , LRG_766:g.143497C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.860C=
ENST00000688602.1:c.2257C=
ENST00000689936.1:c.2229C=
ENST00000359596.8:c.13924C= MANE Select	ENSP00000352608.2:p.Pro4642=
ENST00000355481.8:c.13909C=	ENSP00000347667.3:p.Pro4637=
ENST00000359596.7:c.13924C=	ENSP00000352608.2:p.Pro4642=
ENST00000360985.7:c.13906C=	ENSP00000354254.4:p.Pro4636=
ENST00000593677.1:c.384C=
NM_000540.2:c.13924C= , LRG_766t1:c.13924C=	NP_000531.2:p.Pro4642=
NM_001042723.1:c.13909C=	NP_001036188.1:p.Pro4637=
XM_006723317.1:c.13906C=	XP_006723380.1:p.Pro4636=
XM_006723319.1:c.13891C=	XP_006723382.1:p.Pro4631=
XM_011527204.1:c.13921C=	XP_011525506.1:p.Pro4641=
XM_011527205.1:c.13837C=	XP_011525507.1:p.Pro4613=
XM_006723317.2:c.13906C=	XP_006723380.1:p.Pro4636=
XM_006723319.2:c.13891C=	XP_006723382.1:p.Pro4631=
XM_011527205.2:c.13837C=	XP_011525507.1:p.Pro4613=
NM_000540.3:c.13924C= MANE Select	NP_000531.2:p.Pro4642=
NM_001042723.2:c.13909C=	NP_001036188.1:p.Pro4637=