Canonical Allele Identifier: CA2335088990

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573229T= , CM000681.2:g.38573229T=	GRCh38
NC_000019.9:g.39063869T= , CM000681.1:g.39063869T=	GRCh37
NC_000019.8:g.43755709T=	NCBI36
NG_008866.1:g.144530T= , LRG_766:g.144530T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.987T=
ENST00000688602.1:c.2384T=
ENST00000689936.1:c.2356T=
ENST00000359596.8:c.14051T= MANE Select	ENSP00000352608.2:p.Phe4684=
ENST00000355481.8:c.14036T=	ENSP00000347667.3:p.Phe4679=
ENST00000359596.7:c.14051T=	ENSP00000352608.2:p.Phe4684=
ENST00000360985.7:c.14033T=	ENSP00000354254.4:p.Phe4678=
NM_000540.2:c.14051T= , LRG_766t1:c.14051T=	NP_000531.2:p.Phe4684=
NM_001042723.1:c.14036T=	NP_001036188.1:p.Phe4679=
XM_006723317.1:c.14033T=	XP_006723380.1:p.Phe4678=
XM_006723319.1:c.14018T=	XP_006723382.1:p.Phe4673=
XM_011527204.1:c.14048T=	XP_011525506.1:p.Phe4683=
XM_011527205.1:c.13964T=	XP_011525507.1:p.Phe4655=
XM_006723317.2:c.14033T=	XP_006723380.1:p.Phe4678=
XM_006723319.2:c.14018T=	XP_006723382.1:p.Phe4673=
XM_011527205.2:c.13964T=	XP_011525507.1:p.Phe4655=
NM_000540.3:c.14051T= MANE Select	NP_000531.2:p.Phe4684=
NM_001042723.2:c.14036T=	NP_001036188.1:p.Phe4679=