Canonical Allele Identifier: CA2335084810

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565320C= , CM000681.2:g.38565320C=	GRCh38
NC_000019.9:g.39055960C= , CM000681.1:g.39055960C=	GRCh37
NC_000019.8:g.43747800C=	NCBI36
NG_008866.1:g.136621C= , LRG_766:g.136621C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12986C= MANE Select	NP_000531.2:p.Ala4329=
ENST00000359596.8:c.12986C= MANE Select	ENSP00000352608.2:p.Ala4329=
NM_000540.2:c.12986C= , LRG_766t1:c.12986C=	NP_000531.2:p.Ala4329=
NM_001042723.1:c.12971C=	NP_001036188.1:p.Ala4324=
NM_001042723.2:c.12971C=	NP_001036188.1:p.Ala4324=
ENST00000355481.8:c.12971C=	ENSP00000347667.3:p.Ala4324=
ENST00000359596.7:c.12986C=	ENSP00000352608.2:p.Ala4329=
ENST00000360985.7:c.12968C=	ENSP00000354254.4:p.Ala4323=
ENST00000688602.1:c.1396C=
ENST00000689936.1:c.1378C=
XM_006723317.1:c.12968C=	XP_006723380.1:p.Ala4323=
XM_006723317.2:c.12968C=	XP_006723380.1:p.Ala4323=
XM_006723319.1:c.12953C=	XP_006723382.1:p.Ala4318=
XM_006723319.2:c.12953C=	XP_006723382.1:p.Ala4318=
XM_011527204.1:c.12983C=	XP_011525506.1:p.Ala4328=
XM_011527205.1:c.12986C=	XP_011525507.1:p.Ala4329=
XM_011527205.2:c.12986C=	XP_011525507.1:p.Ala4329=