Canonical Allele Identifier: CA2335092272

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580035C= , CM000681.2:g.38580035C=	GRCh38
NC_000019.9:g.39070675C= , CM000681.1:g.39070675C=	GRCh37
NC_000019.8:g.43762515C=	NCBI36
NG_008866.1:g.151336C= , LRG_766:g.151336C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1354C=
ENST00000688602.1:c.2751C=
ENST00000689936.1:c.2723C=
ENST00000359596.8:c.14418C= MANE Select	ENSP00000352608.2:p.Asn4806=
ENST00000355481.8:c.14403C=	ENSP00000347667.3:p.Asn4801=
ENST00000359596.7:c.14418C=	ENSP00000352608.2:p.Asn4806=
ENST00000360985.7:c.14400C=	ENSP00000354254.4:p.Asn4800=
NM_000540.2:c.14418C= , LRG_766t1:c.14418C=	NP_000531.2:p.Asn4806=
NM_001042723.1:c.14403C=	NP_001036188.1:p.Asn4801=
XM_006723317.1:c.14400C=	XP_006723380.1:p.Asn4800=
XM_006723319.1:c.14385C=	XP_006723382.1:p.Asn4795=
XM_011527204.1:c.14415C=	XP_011525506.1:p.Asn4805=
XM_011527205.1:c.14331C=	XP_011525507.1:p.Asn4777=
XM_006723317.2:c.14400C=	XP_006723380.1:p.Asn4800=
XM_006723319.2:c.14385C=	XP_006723382.1:p.Asn4795=
XM_011527205.2:c.14331C=	XP_011525507.1:p.Asn4777=
NM_000540.3:c.14418C= MANE Select	NP_000531.2:p.Asn4806=
NM_001042723.2:c.14403C=	NP_001036188.1:p.Asn4801=