Canonical Allele Identifier: CA2335084927

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565521C= , CM000681.2:g.38565521C=	GRCh38
NC_000019.9:g.39056161C= , CM000681.1:g.39056161C=	GRCh37
NC_000019.8:g.43748001C=	NCBI36
NG_008866.1:g.136822C= , LRG_766:g.136822C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.123C=
ENST00000688602.1:c.1597C=
ENST00000689936.1:c.1579C=
ENST00000359596.8:c.13187C= MANE Select	ENSP00000352608.2:p.Pro4396=
ENST00000355481.8:c.13172C=	ENSP00000347667.3:p.Pro4391=
ENST00000359596.7:c.13187C=	ENSP00000352608.2:p.Pro4396=
ENST00000360985.7:c.13169C=	ENSP00000354254.4:p.Pro4390=
NM_000540.2:c.13187C= , LRG_766t1:c.13187C=	NP_000531.2:p.Pro4396=
NM_001042723.1:c.13172C=	NP_001036188.1:p.Pro4391=
XM_006723317.1:c.13169C=	XP_006723380.1:p.Pro4390=
XM_006723319.1:c.13154C=	XP_006723382.1:p.Pro4385=
XM_011527204.1:c.13184C=	XP_011525506.1:p.Pro4395=
XM_011527205.1:c.13187C=	XP_011525507.1:p.Pro4396=
XM_006723317.2:c.13169C=	XP_006723380.1:p.Pro4390=
XM_006723319.2:c.13154C=	XP_006723382.1:p.Pro4385=
XM_011527205.2:c.13187C=	XP_011525507.1:p.Pro4396=
NM_000540.3:c.13187C= MANE Select	NP_000531.2:p.Pro4396=
NM_001042723.2:c.13172C=	NP_001036188.1:p.Pro4391=