Canonical Allele Identifier: CA2335084592

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565006C= , CM000681.2:g.38565006C=	GRCh38
NC_000019.9:g.39055646C= , CM000681.1:g.39055646C=	GRCh37
NC_000019.8:g.43747486C=	NCBI36
NG_008866.1:g.136307C= , LRG_766:g.136307C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1082C=
ENST00000689936.1:c.1064C=
ENST00000359596.8:c.12672C= MANE Select	ENSP00000352608.2:p.Gly4224=
ENST00000355481.8:c.12657C=	ENSP00000347667.3:p.Gly4219=
ENST00000359596.7:c.12672C=	ENSP00000352608.2:p.Gly4224=
ENST00000360985.7:c.12654C=	ENSP00000354254.4:p.Gly4218=
ENST00000594335.5:c.6041C=
NM_000540.2:c.12672C= , LRG_766t1:c.12672C=	NP_000531.2:p.Gly4224=
NM_001042723.1:c.12657C=	NP_001036188.1:p.Gly4219=
XM_006723317.1:c.12654C=	XP_006723380.1:p.Gly4218=
XM_006723319.1:c.12639C=	XP_006723382.1:p.Gly4213=
XM_011527204.1:c.12669C=	XP_011525506.1:p.Gly4223=
XM_011527205.1:c.12672C=	XP_011525507.1:p.Gly4224=
XM_006723317.2:c.12654C=	XP_006723380.1:p.Gly4218=
XM_006723319.2:c.12639C=	XP_006723382.1:p.Gly4213=
XM_011527205.2:c.12672C=	XP_011525507.1:p.Gly4224=
NM_000540.3:c.12672C= MANE Select	NP_000531.2:p.Gly4224=
NM_001042723.2:c.12657C=	NP_001036188.1:p.Gly4219=