Canonical Allele Identifier: CA2335092514

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580500T= , CM000681.2:g.38580500T=	GRCh38
NC_000019.9:g.39071140T= , CM000681.1:g.39071140T=	GRCh37
NC_000019.8:g.43762980T=	NCBI36
NG_008866.1:g.151801T= , LRG_766:g.151801T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1578T=
ENST00000688602.1:c.2975T=
ENST00000689936.1:c.2947T=
ENST00000359596.8:c.14642T= MANE Select	ENSP00000352608.2:p.Met4881=
ENST00000355481.8:c.14627T=	ENSP00000347667.3:p.Met4876=
ENST00000359596.7:c.14642T=	ENSP00000352608.2:p.Met4881=
ENST00000360985.7:c.14624T=	ENSP00000354254.4:p.Met4875=
NM_000540.2:c.14642T= , LRG_766t1:c.14642T=	NP_000531.2:p.Met4881=
NM_001042723.1:c.14627T=	NP_001036188.1:p.Met4876=
XM_006723317.1:c.14624T=	XP_006723380.1:p.Met4875=
XM_006723319.1:c.14609T=	XP_006723382.1:p.Met4870=
XM_011527204.1:c.14639T=	XP_011525506.1:p.Met4880=
XM_011527205.1:c.14555T=	XP_011525507.1:p.Met4852=
XM_006723317.2:c.14624T=	XP_006723380.1:p.Met4875=
XM_006723319.2:c.14609T=	XP_006723382.1:p.Met4870=
XM_011527205.2:c.14555T=	XP_011525507.1:p.Met4852=
NM_000540.3:c.14642T= MANE Select	NP_000531.2:p.Met4881=
NM_001042723.2:c.14627T=	NP_001036188.1:p.Met4876=