Canonical Allele Identifier: CA2335084887

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565451A= , CM000681.2:g.38565451A=	GRCh38
NC_000019.9:g.39056091A= , CM000681.1:g.39056091A=	GRCh37
NC_000019.8:g.43747931A=	NCBI36
NG_008866.1:g.136752A= , LRG_766:g.136752A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.53A=
ENST00000688602.1:c.1527A=
ENST00000689936.1:c.1509A=
ENST00000359596.8:c.13117A= MANE Select	ENSP00000352608.2:p.Lys4373=
ENST00000355481.8:c.13102A=	ENSP00000347667.3:p.Lys4368=
ENST00000359596.7:c.13117A=	ENSP00000352608.2:p.Lys4373=
ENST00000360985.7:c.13099A=	ENSP00000354254.4:p.Lys4367=
NM_000540.2:c.13117A= , LRG_766t1:c.13117A=	NP_000531.2:p.Lys4373=
NM_001042723.1:c.13102A=	NP_001036188.1:p.Lys4368=
XM_006723317.1:c.13099A=	XP_006723380.1:p.Lys4367=
XM_006723319.1:c.13084A=	XP_006723382.1:p.Lys4362=
XM_011527204.1:c.13114A=	XP_011525506.1:p.Lys4372=
XM_011527205.1:c.13117A=	XP_011525507.1:p.Lys4373=
XM_006723317.2:c.13099A=	XP_006723380.1:p.Lys4367=
XM_006723319.2:c.13084A=	XP_006723382.1:p.Lys4362=
XM_011527205.2:c.13117A=	XP_011525507.1:p.Lys4373=
NM_000540.3:c.13117A= MANE Select	NP_000531.2:p.Lys4373=
NM_001042723.2:c.13102A=	NP_001036188.1:p.Lys4368=