Canonical Allele Identifier: CA2335062022

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517431T= , CM000681.2:g.38517431T=	GRCh38
NC_000019.9:g.39008071T= , CM000681.1:g.39008071T=	GRCh37
NC_000019.8:g.43699911T=	NCBI36
NG_008866.1:g.88732T= , LRG_766:g.88732T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9697T=	ENSP00000471601.2:n.9697T=
ENST00000359596.8:c.9758T= MANE Select	ENSP00000352608.2:p.Ile3253=
ENST00000355481.8:c.9758T=	ENSP00000347667.3:p.Ile3253=
ENST00000359596.7:c.9758T=	ENSP00000352608.2:p.Ile3253=
ENST00000360985.7:c.9755T=	ENSP00000354254.4:p.Ile3252=
ENST00000594335.5:c.3160T=
ENST00000599547.5:c.565T=
NM_000540.2:c.9758T= , LRG_766t1:c.9758T=	NP_000531.2:p.Ile3253=
NM_001042723.1:c.9758T=	NP_001036188.1:p.Ile3253=
XM_006723317.1:c.9758T=	XP_006723380.1:p.Ile3253=
XM_006723319.1:c.9758T=	XP_006723382.1:p.Ile3253=
XM_011527204.1:c.9755T=	XP_011525506.1:p.Ile3252=
XM_011527205.1:c.9758T=	XP_011525507.1:p.Ile3253=
XM_006723317.2:c.9758T=	XP_006723380.1:p.Ile3253=
XM_006723319.2:c.9758T=	XP_006723382.1:p.Ile3253=
XM_011527205.2:c.9758T=	XP_011525507.1:p.Ile3253=
NM_000540.3:c.9758T= MANE Select	NP_000531.2:p.Ile3253=
NM_001042723.2:c.9758T=	NP_001036188.1:p.Ile3253=