Canonical Allele Identifier: CA2335092304

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580105T= , CM000681.2:g.38580105T=	GRCh38
NC_000019.9:g.39070745T= , CM000681.1:g.39070745T=	GRCh37
NC_000019.8:g.43762585T=	NCBI36
NG_008866.1:g.151406T= , LRG_766:g.151406T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1424T=
ENST00000688602.1:c.2821T=
ENST00000689936.1:c.2793T=
ENST00000359596.8:c.14488T= MANE Select	ENSP00000352608.2:p.Ser4830=
ENST00000355481.8:c.14473T=	ENSP00000347667.3:p.Ser4825=
ENST00000359596.7:c.14488T=	ENSP00000352608.2:p.Ser4830=
ENST00000360985.7:c.14470T=	ENSP00000354254.4:p.Ser4824=
NM_000540.2:c.14488T= , LRG_766t1:c.14488T=	NP_000531.2:p.Ser4830=
NM_001042723.1:c.14473T=	NP_001036188.1:p.Ser4825=
XM_006723317.1:c.14470T=	XP_006723380.1:p.Ser4824=
XM_006723319.1:c.14455T=	XP_006723382.1:p.Ser4819=
XM_011527204.1:c.14485T=	XP_011525506.1:p.Ser4829=
XM_011527205.1:c.14401T=	XP_011525507.1:p.Ser4801=
XM_006723317.2:c.14470T=	XP_006723380.1:p.Ser4824=
XM_006723319.2:c.14455T=	XP_006723382.1:p.Ser4819=
XM_011527205.2:c.14401T=	XP_011525507.1:p.Ser4801=
NM_000540.3:c.14488T= MANE Select	NP_000531.2:p.Ser4830=
NM_001042723.2:c.14473T=	NP_001036188.1:p.Ser4825=