Canonical Allele Identifier: CA2335088437

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572192G= , CM000681.2:g.38572192G=	GRCh38
NC_000019.9:g.39062832G= , CM000681.1:g.39062832G=	GRCh37
NC_000019.8:g.43754672G=	NCBI36
NG_008866.1:g.143493G= , LRG_766:g.143493G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.856G=
ENST00000688602.1:c.2253G=
ENST00000689936.1:c.2225G=
ENST00000359596.8:c.13920G= MANE Select	ENSP00000352608.2:p.Met4640=
ENST00000355481.8:c.13905G=	ENSP00000347667.3:p.Met4635=
ENST00000359596.7:c.13920G=	ENSP00000352608.2:p.Met4640=
ENST00000360985.7:c.13902G=	ENSP00000354254.4:p.Met4634=
ENST00000593677.1:c.380G=
NM_000540.2:c.13920G= , LRG_766t1:c.13920G=	NP_000531.2:p.Met4640=
NM_001042723.1:c.13905G=	NP_001036188.1:p.Met4635=
XM_006723317.1:c.13902G=	XP_006723380.1:p.Met4634=
XM_006723319.1:c.13887G=	XP_006723382.1:p.Met4629=
XM_011527204.1:c.13917G=	XP_011525506.1:p.Met4639=
XM_011527205.1:c.13833G=	XP_011525507.1:p.Met4611=
XM_006723317.2:c.13902G=	XP_006723380.1:p.Met4634=
XM_006723319.2:c.13887G=	XP_006723382.1:p.Met4629=
XM_011527205.2:c.13833G=	XP_011525507.1:p.Met4611=
NM_000540.3:c.13920G= MANE Select	NP_000531.2:p.Met4640=
NM_001042723.2:c.13905G=	NP_001036188.1:p.Met4635=