Canonical Allele Identifier: CA2335088347

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572019G= , CM000681.2:g.38572019G=	GRCh38
NC_000019.9:g.39062659G= , CM000681.1:g.39062659G=	GRCh37
NC_000019.8:g.43754499G=	NCBI36
NG_008866.1:g.143320G= , LRG_766:g.143320G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.683G=
ENST00000688602.1:c.2080G=
ENST00000689936.1:c.2052G=
ENST00000359596.8:c.13747G= MANE Select	ENSP00000352608.2:p.Val4583=
ENST00000355481.8:c.13732G=	ENSP00000347667.3:p.Val4578=
ENST00000359596.7:c.13747G=	ENSP00000352608.2:p.Val4583=
ENST00000360985.7:c.13729G=	ENSP00000354254.4:p.Val4577=
ENST00000593677.1:c.207G=
NM_000540.2:c.13747G= , LRG_766t1:c.13747G=	NP_000531.2:p.Val4583=
NM_001042723.1:c.13732G=	NP_001036188.1:p.Val4578=
XM_006723317.1:c.13729G=	XP_006723380.1:p.Val4577=
XM_006723319.1:c.13714G=	XP_006723382.1:p.Val4572=
XM_011527204.1:c.13744G=	XP_011525506.1:p.Val4582=
XM_011527205.1:c.13660G=	XP_011525507.1:p.Val4554=
XM_006723317.2:c.13729G=	XP_006723380.1:p.Val4577=
XM_006723319.2:c.13714G=	XP_006723382.1:p.Val4572=
XM_011527205.2:c.13660G=	XP_011525507.1:p.Val4554=
NM_000540.3:c.13747G= MANE Select	NP_000531.2:p.Val4583=
NM_001042723.2:c.13732G=	NP_001036188.1:p.Val4578=