Canonical Allele Identifier: CA2335052764

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499486T= , CM000681.2:g.38499486T=	GRCh38
NC_000019.9:g.38990126T= , CM000681.1:g.38990126T=	GRCh37
NC_000019.8:g.43681966T=	NCBI36
NG_008866.1:g.70787T= , LRG_766:g.70787T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7028-149T=	ENSP00000471601.2:n.7028-149T=
ENST00000359596.8:c.7028-149T= MANE Select	ENSP00000352608.2:n.7028-149T=
ENST00000355481.8:c.7028-149T=	ENSP00000347667.3:n.7028-149T=
ENST00000359596.7:c.7028-149T=	ENSP00000352608.2:n.7028-149T=
ENST00000360985.7:c.7025-149T=	ENSP00000354254.4:n.7025-149T=
ENST00000594335.5:c.480-149T=
NM_000540.2:c.7028-149T= , LRG_766t1:c.7028-149T=	NP_000531.2:n.7028-149T=
NM_001042723.1:c.7028-149T=	NP_001036188.1:n.7028-149T=
XM_006723317.1:c.7028-149T=	XP_006723380.1:n.7028-149T=
XM_006723319.1:c.7028-149T=	XP_006723382.1:n.7028-149T=
XM_011527204.1:c.7025-149T=	XP_011525506.1:n.7025-149T=
XM_011527205.1:c.7028-149T=	XP_011525507.1:n.7028-149T=
XM_006723317.2:c.7028-149T=	XP_006723380.1:n.7028-149T=
XM_006723319.2:c.7028-149T=	XP_006723382.1:n.7028-149T=
XM_011527205.2:c.7028-149T=	XP_011525507.1:n.7028-149T=
XR_001753735.1:n.7111-149T=
NM_000540.3:c.7028-149T= MANE Select	NP_000531.2:n.7028-149T=
NM_001042723.2:c.7028-149T=	NP_001036188.1:n.7028-149T=