Canonical Allele Identifier: CA2335092496

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580459C= , CM000681.2:g.38580459C=	GRCh38
NC_000019.9:g.39071099C= , CM000681.1:g.39071099C=	GRCh37
NC_000019.8:g.43762939C=	NCBI36
NG_008866.1:g.151760C= , LRG_766:g.151760C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1537C=
ENST00000688602.1:c.2934C=
ENST00000689936.1:c.2906C=
ENST00000359596.8:c.14601C= MANE Select	ENSP00000352608.2:p.Ser4867=
ENST00000355481.8:c.14586C=	ENSP00000347667.3:p.Ser4862=
ENST00000359596.7:c.14601C=	ENSP00000352608.2:p.Ser4867=
ENST00000360985.7:c.14583C=	ENSP00000354254.4:p.Ser4861=
NM_000540.2:c.14601C= , LRG_766t1:c.14601C=	NP_000531.2:p.Ser4867=
NM_001042723.1:c.14586C=	NP_001036188.1:p.Ser4862=
XM_006723317.1:c.14583C=	XP_006723380.1:p.Ser4861=
XM_006723319.1:c.14568C=	XP_006723382.1:p.Ser4856=
XM_011527204.1:c.14598C=	XP_011525506.1:p.Ser4866=
XM_011527205.1:c.14514C=	XP_011525507.1:p.Ser4838=
XM_006723317.2:c.14583C=	XP_006723380.1:p.Ser4861=
XM_006723319.2:c.14568C=	XP_006723382.1:p.Ser4856=
XM_011527205.2:c.14514C=	XP_011525507.1:p.Ser4838=
NM_000540.3:c.14601C= MANE Select	NP_000531.2:p.Ser4867=
NM_001042723.2:c.14586C=	NP_001036188.1:p.Ser4862=