Canonical Allele Identifier: CA2335088469

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572263G= , CM000681.2:g.38572263G=	GRCh38
NC_000019.9:g.39062903G= , CM000681.1:g.39062903G=	GRCh37
NC_000019.8:g.43754743G=	NCBI36
NG_008866.1:g.143564G= , LRG_766:g.143564G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.927G=
ENST00000688602.1:c.2324G=
ENST00000689936.1:c.2296G=
ENST00000359596.8:c.13991G= MANE Select	ENSP00000352608.2:p.Cys4664=
ENST00000355481.8:c.13976G=	ENSP00000347667.3:p.Cys4659=
ENST00000359596.7:c.13991G=	ENSP00000352608.2:p.Cys4664=
ENST00000360985.7:c.13973G=	ENSP00000354254.4:p.Cys4658=
NM_000540.2:c.13991G= , LRG_766t1:c.13991G=	NP_000531.2:p.Cys4664=
NM_001042723.1:c.13976G=	NP_001036188.1:p.Cys4659=
XM_006723317.1:c.13973G=	XP_006723380.1:p.Cys4658=
XM_006723319.1:c.13958G=	XP_006723382.1:p.Cys4653=
XM_011527204.1:c.13988G=	XP_011525506.1:p.Cys4663=
XM_011527205.1:c.13904G=	XP_011525507.1:p.Cys4635=
XM_006723317.2:c.13973G=	XP_006723380.1:p.Cys4658=
XM_006723319.2:c.13958G=	XP_006723382.1:p.Cys4653=
XM_011527205.2:c.13904G=	XP_011525507.1:p.Cys4635=
NM_000540.3:c.13991G= MANE Select	NP_000531.2:p.Cys4664=
NM_001042723.2:c.13976G=	NP_001036188.1:p.Cys4659=