Canonical Allele Identifier: CA2335089015

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573284G= , CM000681.2:g.38573284G=	GRCh38
NC_000019.9:g.39063924G= , CM000681.1:g.39063924G=	GRCh37
NC_000019.8:g.43755764G=	NCBI36
NG_008866.1:g.144585G= , LRG_766:g.144585G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1042G=
ENST00000688602.1:c.2439G=
ENST00000689936.1:c.2411G=
ENST00000359596.8:c.14106G= MANE Select	ENSP00000352608.2:p.Trp4702=
ENST00000355481.8:c.14091G=	ENSP00000347667.3:p.Trp4697=
ENST00000359596.7:c.14106G=	ENSP00000352608.2:p.Trp4702=
ENST00000360985.7:c.14088G=	ENSP00000354254.4:p.Trp4696=
NM_000540.2:c.14106G= , LRG_766t1:c.14106G=	NP_000531.2:p.Trp4702=
NM_001042723.1:c.14091G=	NP_001036188.1:p.Trp4697=
XM_006723317.1:c.14088G=	XP_006723380.1:p.Trp4696=
XM_006723319.1:c.14073G=	XP_006723382.1:p.Trp4691=
XM_011527204.1:c.14103G=	XP_011525506.1:p.Trp4701=
XM_011527205.1:c.14019G=	XP_011525507.1:p.Trp4673=
XM_006723317.2:c.14088G=	XP_006723380.1:p.Trp4696=
XM_006723319.2:c.14073G=	XP_006723382.1:p.Trp4691=
XM_011527205.2:c.14019G=	XP_011525507.1:p.Trp4673=
NM_000540.3:c.14106G= MANE Select	NP_000531.2:p.Trp4702=
NM_001042723.2:c.14091G=	NP_001036188.1:p.Trp4697=