Canonical Allele Identifier: CA2335086272

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38567912T= , CM000681.2:g.38567912T=	GRCh38
NC_000019.9:g.39058552T= , CM000681.1:g.39058552T=	GRCh37
NC_000019.8:g.43750392T=	NCBI36
NG_008866.1:g.139213T= , LRG_766:g.139213T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13654T= MANE Select	NP_000531.2:p.Phe4552=
ENST00000359596.8:c.13654T= MANE Select	ENSP00000352608.2:p.Phe4552=
NM_000540.2:c.13654T= , LRG_766t1:c.13654T=	NP_000531.2:p.Phe4552=
NM_001042723.1:c.13639T=	NP_001036188.1:p.Phe4547=
NM_001042723.2:c.13639T=	NP_001036188.1:p.Phe4547=
ENST00000355481.8:c.13639T=	ENSP00000347667.3:p.Phe4547=
ENST00000359596.7:c.13654T=	ENSP00000352608.2:p.Phe4552=
ENST00000360985.7:c.13636T=	ENSP00000354254.4:p.Phe4546=
ENST00000593677.1:c.201T=
ENST00000593677.2:c.590T=
ENST00000688602.1:c.1987T=
ENST00000689936.1:c.2046T=
XM_006723317.1:c.13636T=	XP_006723380.1:p.Phe4546=
XM_006723317.2:c.13636T=	XP_006723380.1:p.Phe4546=
XM_006723319.1:c.13621T=	XP_006723382.1:p.Phe4541=
XM_006723319.2:c.13621T=	XP_006723382.1:p.Phe4541=
XM_011527204.1:c.13651T=	XP_011525506.1:p.Phe4551=
XM_011527205.1:c.13654T=	XP_011525507.1:p.Phe4552=
XM_011527205.2:c.13654T=	XP_011525507.1:p.Phe4552=