Canonical Allele Identifier: CA2335089069

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573399G= , CM000681.2:g.38573399G=	GRCh38
NC_000019.9:g.39064039G= , CM000681.1:g.39064039G=	GRCh37
NC_000019.8:g.43755879G=	NCBI36
NG_008866.1:g.144700G= , LRG_766:g.144700G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1065+92G=
ENST00000688602.1:c.2462+92G=
ENST00000689936.1:c.2434+92G=
ENST00000359596.8:c.14129+92G= MANE Select	ENSP00000352608.2:n.14129+92G=
ENST00000355481.8:c.14114+92G=	ENSP00000347667.3:n.14114+92G=
ENST00000359596.7:c.14129+92G=	ENSP00000352608.2:n.14129+92G=
ENST00000360985.7:c.14111+92G=	ENSP00000354254.4:n.14111+92G=
NM_000540.2:c.14129+92G= , LRG_766t1:c.14129+92G=	NP_000531.2:n.14129+92G=
NM_001042723.1:c.14114+92G=	NP_001036188.1:n.14114+92G=
XM_006723317.1:c.14111+92G=	XP_006723380.1:n.14111+92G=
XM_006723319.1:c.14096+92G=	XP_006723382.1:n.14096+92G=
XM_011527204.1:c.14126+92G=	XP_011525506.1:n.14126+92G=
XM_011527205.1:c.14042+92G=	XP_011525507.1:n.14042+92G=
XM_006723317.2:c.14111+92G=	XP_006723380.1:n.14111+92G=
XM_006723319.2:c.14096+92G=	XP_006723382.1:n.14096+92G=
XM_011527205.2:c.14042+92G=	XP_011525507.1:n.14042+92G=
NM_000540.3:c.14129+92G= MANE Select	NP_000531.2:n.14129+92G=
NM_001042723.2:c.14114+92G=	NP_001036188.1:n.14114+92G=