Canonical Allele Identifier: CA2335095584

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586164T= , CM000681.2:g.38586164T=	GRCh38
NC_000019.9:g.39076804T= , CM000681.1:g.39076804T=	GRCh37
NC_000019.8:g.43768644T=	NCBI36
NG_008866.1:g.157465T= , LRG_766:g.157465T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1878T=
ENST00000688602.1:c.3275T=
ENST00000689936.1:c.3247T=
ENST00000692547.1:n.335T=
ENST00000359596.8:c.14942T= MANE Select	ENSP00000352608.2:p.Leu4981=
ENST00000355481.8:c.14927T=	ENSP00000347667.3:p.Leu4976=
ENST00000359596.7:c.14942T=	ENSP00000352608.2:p.Leu4981=
ENST00000360985.7:c.14924T=	ENSP00000354254.4:p.Leu4975=
NM_000540.2:c.14942T= , LRG_766t1:c.14942T=	NP_000531.2:p.Leu4981=
NM_001042723.1:c.14927T=	NP_001036188.1:p.Leu4976=
XM_006723317.1:c.14924T=	XP_006723380.1:p.Leu4975=
XM_006723319.1:c.14909T=	XP_006723382.1:p.Leu4970=
XM_011527204.1:c.14939T=	XP_011525506.1:p.Leu4980=
XM_011527205.1:c.14855T=	XP_011525507.1:p.Leu4952=
XM_006723317.2:c.14924T=	XP_006723380.1:p.Leu4975=
XM_006723319.2:c.14909T=	XP_006723382.1:p.Leu4970=
XM_011527205.2:c.14855T=	XP_011525507.1:p.Leu4952=
NM_000540.3:c.14942T= MANE Select	NP_000531.2:p.Leu4981=
NM_001042723.2:c.14927T=	NP_001036188.1:p.Leu4976=