Canonical Allele Identifier: CA2335092470

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580425C= , CM000681.2:g.38580425C=	GRCh38
NC_000019.9:g.39071065C= , CM000681.1:g.39071065C=	GRCh37
NC_000019.8:g.43762905C=	NCBI36
NG_008866.1:g.151726C= , LRG_766:g.151726C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1503C=
ENST00000688602.1:c.2900C=
ENST00000689936.1:c.2872C=
ENST00000359596.8:c.14567C= MANE Select	ENSP00000352608.2:p.Ala4856=
ENST00000355481.8:c.14552C=	ENSP00000347667.3:p.Ala4851=
ENST00000359596.7:c.14567C=	ENSP00000352608.2:p.Ala4856=
ENST00000360985.7:c.14549C=	ENSP00000354254.4:p.Ala4850=
NM_000540.2:c.14567C= , LRG_766t1:c.14567C=	NP_000531.2:p.Ala4856=
NM_001042723.1:c.14552C=	NP_001036188.1:p.Ala4851=
XM_006723317.1:c.14549C=	XP_006723380.1:p.Ala4850=
XM_006723319.1:c.14534C=	XP_006723382.1:p.Ala4845=
XM_011527204.1:c.14564C=	XP_011525506.1:p.Ala4855=
XM_011527205.1:c.14480C=	XP_011525507.1:p.Ala4827=
XM_006723317.2:c.14549C=	XP_006723380.1:p.Ala4850=
XM_006723319.2:c.14534C=	XP_006723382.1:p.Ala4845=
XM_011527205.2:c.14480C=	XP_011525507.1:p.Ala4827=
NM_000540.3:c.14567C= MANE Select	NP_000531.2:p.Ala4856=
NM_001042723.2:c.14552C=	NP_001036188.1:p.Ala4851=