Canonical Allele Identifier: CA2335084750

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565226G= , CM000681.2:g.38565226G=	GRCh38
NC_000019.9:g.39055866G= , CM000681.1:g.39055866G=	GRCh37
NC_000019.8:g.43747706G=	NCBI36
NG_008866.1:g.136527G= , LRG_766:g.136527G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1302G=
ENST00000689936.1:c.1284G=
ENST00000359596.8:c.12892G= MANE Select	ENSP00000352608.2:p.Val4298=
ENST00000355481.8:c.12877G=	ENSP00000347667.3:p.Val4293=
ENST00000359596.7:c.12892G=	ENSP00000352608.2:p.Val4298=
ENST00000360985.7:c.12874G=	ENSP00000354254.4:p.Val4292=
ENST00000594335.5:c.6261G=
NM_000540.2:c.12892G= , LRG_766t1:c.12892G=	NP_000531.2:p.Val4298=
NM_001042723.1:c.12877G=	NP_001036188.1:p.Val4293=
XM_006723317.1:c.12874G=	XP_006723380.1:p.Val4292=
XM_006723319.1:c.12859G=	XP_006723382.1:p.Val4287=
XM_011527204.1:c.12889G=	XP_011525506.1:p.Val4297=
XM_011527205.1:c.12892G=	XP_011525507.1:p.Val4298=
XM_006723317.2:c.12874G=	XP_006723380.1:p.Val4292=
XM_006723319.2:c.12859G=	XP_006723382.1:p.Val4287=
XM_011527205.2:c.12892G=	XP_011525507.1:p.Val4298=
NM_000540.3:c.12892G= MANE Select	NP_000531.2:p.Val4298=
NM_001042723.2:c.12877G=	NP_001036188.1:p.Val4293=