Canonical Allele Identifier: CA2335088963

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573177G= , CM000681.2:g.38573177G=	GRCh38
NC_000019.9:g.39063817G= , CM000681.1:g.39063817G=	GRCh37
NC_000019.8:g.43755657G=	NCBI36
NG_008866.1:g.144478G= , LRG_766:g.144478G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.935G=
ENST00000688602.1:c.2332G=
ENST00000689936.1:c.2304G=
ENST00000359596.8:c.13999G= MANE Select	ENSP00000352608.2:p.Val4667=
ENST00000355481.8:c.13984G=	ENSP00000347667.3:p.Val4662=
ENST00000359596.7:c.13999G=	ENSP00000352608.2:p.Val4667=
ENST00000360985.7:c.13981G=	ENSP00000354254.4:p.Val4661=
NM_000540.2:c.13999G= , LRG_766t1:c.13999G=	NP_000531.2:p.Val4667=
NM_001042723.1:c.13984G=	NP_001036188.1:p.Val4662=
XM_006723317.1:c.13981G=	XP_006723380.1:p.Val4661=
XM_006723319.1:c.13966G=	XP_006723382.1:p.Val4656=
XM_011527204.1:c.13996G=	XP_011525506.1:p.Val4666=
XM_011527205.1:c.13912G=	XP_011525507.1:p.Val4638=
XM_006723317.2:c.13981G=	XP_006723380.1:p.Val4661=
XM_006723319.2:c.13966G=	XP_006723382.1:p.Val4656=
XM_011527205.2:c.13912G=	XP_011525507.1:p.Val4638=
NM_000540.3:c.13999G= MANE Select	NP_000531.2:p.Val4667=
NM_001042723.2:c.13984G=	NP_001036188.1:p.Val4662=