Canonical Allele Identifier: CA2335074507

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543748C= , CM000681.2:g.38543748C=	GRCh38
NC_000019.9:g.39034388C= , CM000681.1:g.39034388C=	GRCh37
NC_000019.8:g.43726228C=	NCBI36
NG_008866.1:g.115049C= , LRG_766:g.115049C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.318-23C=
ENST00000689936.1:c.300-23C=
ENST00000359596.8:c.11908-23C= MANE Select	ENSP00000352608.2:n.11908-23C=
ENST00000355481.8:c.11893-23C=	ENSP00000347667.3:n.11893-23C=
ENST00000359596.7:c.11908-23C=	ENSP00000352608.2:n.11908-23C=
ENST00000360985.7:c.11890-23C=	ENSP00000354254.4:n.11890-23C=
ENST00000593322.1:c.517-23C=
ENST00000594335.5:c.5277-23C=
NM_000540.2:c.11908-23C= , LRG_766t1:c.11908-23C=	NP_000531.2:n.11908-23C=
NM_001042723.1:c.11893-23C=	NP_001036188.1:n.11893-23C=
XM_006723317.1:c.11890-23C=	XP_006723380.1:n.11890-23C=
XM_006723319.1:c.11875-23C=	XP_006723382.1:n.11875-23C=
XM_011527204.1:c.11905-23C=	XP_011525506.1:n.11905-23C=
XM_011527205.1:c.11908-23C=	XP_011525507.1:n.11908-23C=
XM_006723317.2:c.11890-23C=	XP_006723380.1:n.11890-23C=
XM_006723319.2:c.11875-23C=	XP_006723382.1:n.11875-23C=
XM_011527205.2:c.11908-23C=	XP_011525507.1:n.11908-23C=
NM_000540.3:c.11908-23C= MANE Select	NP_000531.2:n.11908-23C=
NM_001042723.2:c.11893-23C=	NP_001036188.1:n.11893-23C=